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Home > 희귀난치질환 > 희귀난치성질환이란?

희귀난치성질환이란?

2017년 희귀난치성질환 산정특례 133종(상병코드 895개 질환)
등록일2017-01-11 조회수273
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2017년도 대상질환목록 희귀질환자 의료비지원사업

#건강보험 #산정특례코드 133종(상병코드 895개)

상병코드 A81~Q99.2
특례코드 V102~V245


※ 한국 표준질병·사인분류 '2016 제 7차 개정'에 따른 상병코드 및 질환명 변경으로 인해 아래와 같이 표시합니다.

보장구 구입비, 호흡보조기, 기침유발기, 간병비 지원 대상질환호흡보조기 또는 기침유발기 대여료, 간병비, 보장구 구입비 신청이 가능한
근육병 포함 8종의 질환
간병비 추가 질환간병비 신청이 가능한 질환
호흡보조기 또는 기침유발기 지원 대상질환호흡보조기 또는 기침유발기 신청이 가능한 질환
호흡보조기 또는 기침유발기, 간병비 지원대상 질환호흡보조기 또는 기침유발기, 간병비 신청이 가능한 질환
특수식이 구입비 지원대상질환특수식이 신청이 가능한 질환




*구분란의 번호는 보건복지부 고시 제2015-197호에 의한 산정특례 질환군 기준 분류임


*상병코드는 한국표준질병․사인분류(통계청 http://kostat.go.kr/, 통계분류) 기준에 따름


적용방법 : 상병코드가 A81.3(4자리인 경우)→A81.3에만 적용 상병코드가 M33(3자리인 경우)→M33.0~M33.9까지 모두 적용


*질환목록 중 음영을 넣은 질환은 해당자에 한해 호흡보조기 등 지원 가능함


*NOS : “not otherwise specified”의 약자로 “달리 명시되지 않은 것”의 약어이며, 실제적으로 “상세불명의 것” 및 “성격미상의 것”과 동일함


구분일련
번호
상병
코드
산정특례
특정기호
17년 국문 질환명17년 영문 질환명비고
11A81V102중추신경계통의 비정형바이러스감염Atypical virus infections of central nervous system 
2A81.0V102크로이츠펠트-야콥병Creutzfeldt-Jakob disease호흡보조기,
기침유발기,
간병비 지원
3A81.0V102아급성 해면모양뇌병증Subacute spongiform encephalopathy 
4A81.1V102아급성 경화성 범뇌염Subacute sclerosing panencephalitis 
5A81.1V102도슨 봉입체뇌염Dawson’s inclusion body encephalitis 
6A81.1V102밴보게르트 경화성 백질뇌병증Van Bogaert’s sclerosing leukoencephalopathy 
7A81.2V102진행성 다초점백질뇌병증Progressive multifocal leukoencephalopathy 
8A81.2V102다초점백질뇌병증 NOSMultifocal leukoencephalopathy NOS 
9A81.8V102중추신경계통의 기타 비정형바이러스감염Other atypical virus infections of central nervous system 
10A81.8V102쿠루Kuru 
11A81.9V102중추신경계통의 상세불명의 비정형바이러스감염Atypical virus infection of central nervous system, unspecified 
12A81.9V102중추신경계통의 프리온질환 NOSPrion disease of central nervous system NOS 
213B45V105크립토콕쿠스증Cryptococcosis 
14B45.0V105폐크립토콕쿠스증Pulmonary cryptococcosis 
15B45.1V105대뇌크립토콕쿠스증Cerebral cryptococcosis 
16B45.1V105크립토콕쿠스수막염Cryptococcal meningitis(G02.1*) 
17B45.1V105크립토콕쿠스수막대뇌염Cryptococcal meningocerebritis 
18B45.2V105피부크립토콕쿠스증Cutaneous cryptococcosis 
19B45.3V105골크립토콕쿠스증Osseous cryptococcosis 
20B45.7V105파종성 크립토콕쿠스증Disseminated cryptococcosis 
21B45.7V105전신크립토콕쿠스증Generalized cryptococcosis 
22B45.8V105기타 형태의 크립토콕쿠스증Other forms of cryptococcosis 
23B45.9V105상세불명의 크립토콕쿠스증Cryptococcosis, unspecified 
324C96.5V193다초점 및 단계통성 랑게르한스세포 조직구증Multifocal and unisystemic Langerhans-cell histiocytosis암환자의료비
지원사업과
중복지원 불가
25C96.5V193핸드-쉴러-크리스찬병Hand-Schüller-Christian disease
26C96.5V193조직구증 X, 다초점Histiocytosis X, multifocal
27C96.6V193단초점 랑게르한스세포 조직구증Unifocal Langerhans-cell histiocytosis
28C96.6V193호산구육아종Eosinophilic granuloma
29C96.6V193조직구증 X, 단초점Histiocytosis X, unifocal
30C96.6V193조직구증 X NOSHistiocytosis X NOS
31C96.6V193랑게르한스세포 조직구증 NOSLangerhans-cell histiocytosis NOS
432D35.2V162뇌하수체의 양성 신생물Benign neoplasm of pituitary gland 
533D55.0V163포도당-6-인산탈수소효소결핍에 의한 빈혈Anaemia due to glucose-6- phosphate dehydrogenase [G6PD] deficiency 
34D55.0V163잠두중독Favism 
35D55.0V163G6PD결핍빈혈G6PD deficiency anaemia 
636D55.2V164해당효소의 장애에 의한 빈혈Anaemia due to disorders of glycolytic enzymes 
37D55.2V164용혈성 비구상적혈구성 (유전성) Ⅱ형 빈혈Haemolytic nonspherocytic (hereditary), type Ⅱ anaemia 
38D55.2V164헥소카이네이스결핍빈혈Hexokinase deficiency anaemia 
39D55.2V164피루브산염카이네이스결핍빈혈Pyruvate kinase[PK] deficiency anaemia 
40D55.2V164삼탄당인산염이성화효소결핍빈혈Triose-phosphate isomerase deficiency anaemia 
741D56V232지중해빈혈Thalassaemia 
42D56.0V232알파지중해빈혈Alpha thalassaemia 
43D56.1V232베타지중해빈혈Beta thalassaemia 
44D56.1V232쿠울리빈혈Cooley’s anaemia 
45D56.1V232중증 베타지중해빈혈Severe beta thalassaemia 
46D56.1V232중간형 지중해빈혈Intermedia thalassaemia 
47D56.1V232중증 지중해빈혈Major thalassaemia 
48D56.2V232델타-베타지중해빈혈Delta-beta thalassaemia 
49D56.3V232지중해빈혈 소질Thalassaemia trait 
50D56.4V232태아헤모글로빈의 유전적 존속Hereditary persistence of fetal haemoglobin [HPFH] 
51D56.8V232기타 지중해빈혈Other thalassaemias 
52D56.9V232상세불명의 지중해빈혈Thalassaemia, unspecified 
53D56.9V232지중해빈혈(기타 헤모글로빈병증을 동반한)Mediterranean anaemia (with other haemoglobinopathy) 
54D56.9V232지중해빈혈(경증형, 혼합형, 기타 헤모글로빈병증을 동반한)Thalassaemia(minor, mixed, with other haemoglobinopathy) 
4455D59.5V187발작성 야간헤모글로빈뇨Paroxysmal nocturnal haemoglobinuria [Marchiafava-Micheli] 
956D60V023후천성 순수적혈구무형성[적모구감소]Acquired pure red cell aplasia [erythroblastopenia] 
57D60.0V023만성 후천성 순수적혈구무형성Chronic acquired pure red cell aplasia 
58D60.1V023일과성 후천성 순수적혈구무형성Transient acquired pure red cell aplasia 
59D60.8V023기타 후천성 순수적혈구무형성Other acquired pure red cell aplasias 
60D60.9V023상세불명의 후천성 순수적혈구무형성Acquired pure red cell aplasia, unspecified 
61D61.0V023체질성 무형성빈혈Constitutional aplastic anaemia 
62D61.0V023선천성 무형성(순수)적혈구Aplasia, (pure) red cell (of) congenital 
63D61.0V023영아 무형성(순수)적혈구Aplasia, (pure) red cell (of) infants 
64D61.0V023원발성 무형성(순수)적혈구Aplasia, (pure) red cell (of) primary 
65D61.0V023블랙판-다이아몬드증후군Blackfan-Diamond syndrome 
66D61.0V023가족성 저형성빈혈Familial hypoplastic anaemia 
67D61.0V023판코니빈혈Fanconi’s anaemia 
68D61.0V023기형을 동반한 범혈구감소증Pancytopenia with malformations 
69D61.2V023기타 외부 요인에 의한 무형성빈혈Aplastic anaemia due to other external agents 
70D61.3V023특발성 무형성빈혈Idiopathic aplastic anaemia 
71D61.8V023기타 명시된 무형성빈혈Other specified aplastic anaemias 
72D61.9V023상세불명의 무형성빈혈Aplastic anaemia, unspecified 
73D61.9V023저형성빈혈 NOSHypoplastic anaemia NOS 
74D61.9V023골수형성저하Medullary hypoplasia 
75D61.9V023범골수황폐Panmyelophthisis 
1076D64.4V220선천성 적혈구조혈이상빈혈Congenital dyserythropoietic anaemia 
77D64.4V220이상조혈성 빈혈(선천성)Dyshaematopoietic anaemia(congenital) 
1178D66V009유전성 제8인자결핍Hereditary factor Ⅷ deficiency 
79D66V009제8인자결핍(기능적 결함을 동반)Deficiency factor Ⅷ (with functional defect) 
80D66V009혈우병 NOSHaemophilia NOS 
81D66V009A형혈우병Haemophilia A 
82D66V009고전적 혈우병Classical haemophilia 
83D67V009유전성 제9인자결핍Hereditary factor Ⅸ deficiency 
84D67V009크리스마스병Christmas disease 
85D67V009제9인자결핍(기능적 결함을 동반)Factor Ⅸ deficiency (with functional defect) 
86D67V009혈장트롬보플라스틴성분결핍Plasma thromboplastin component[PTC] deficiency 
87D67V009B형혈우병Haemophilia B 
88D68.0V009폰빌레브란트병Von Willebrand’s disease 
89D68.0V009혈관혈우병Angiohaemophilia 
90D68.0V009혈관결손이 있는 제8인자결핍Factor Ⅷ deficiency with vascular defect 
91D68.0V009혈관혈우병Angiohaemophilia 
92D68.1V009유전성 제11인자결핍Hereditary factor Ⅺ deficiency 
93D68.1V009C형혈우병Haemophilia C 
94D68.1V009혈장트롬보플라스틴전구물질결핍Plasma thromboplastin antecedent [PTA] deficiency 
95D68.2V009기타 응고인자의 유전성 결핍Hereditary deficiency of other clotting factors 
96D68.2V009선천성 무피브리노젠혈증Congenital afibrinogenaemia 
97D68.2V009AC글로불린결핍AC globulin deficiency 
98D68.2V009프로악셀레린결핍Proaccelerin deficiency 
99D68.2V009제1인자[피브리노젠]의 결핍Ⅰ[Fibronogen] deficiency of factor 
100D68.2V009제2인자[프로트롬빈]의 결핍Ⅱ[Prothrombin] deficiency of factor 
101D68.2V009제5인자[불안정]의 결핍Ⅴ[Labile] deficiency of factor 
102D68.2V009제7인자[안정]의 결핍Ⅶ[Stable] deficiency of factor 
103D68.2V009제10인자[스튜어트-프라워]의 결핍Ⅹ[Stuart-Prower] deficiency of factor 
104D68.2V009제12인자[하게만]의 결핍ⅩⅡ[Hageman] deficiency of factor 
105D68.2V009제13인자[피브린안정화]의 결핍ⅩⅢ[Fibrin-stabilizing] deficiency of factor 
106D68.2V009이상피브리노젠혈증(선천성)Dysfibrinogenaemia (congenital) 
107D68.2V009저프로콘버틴혈증Hypoproconvertinaemia 
108D68.2V009오우렌병Owren’s disease 
12109D69.1V106정성적 혈소판결손Qualitative platelet defects 
110D69.1V106베르나르-술리에[거대혈소판]증후군Bernard-Soulier[giant platelet] syndrome 
111D69.1V106글란즈만병Glanzmann’s disease 
112D69.1V106그레이혈소판증후군Grey platelet syndrome 
113D69.1V106혈소판무력증(출혈성)(유전성)Thromboasthenia (haemorrhagic)(hereditary) 
114D69.1V106혈소판병증Thrombocytopathy 
13115D69.30V188에반스증후군Evans’ syndrome 
14116D69.6V107상세불명의 혈소판감소증Thrombocytopenia, unspecified 
15117D70V108무과립구증Agranulocytosis 
118D70V108무과립구성 안지나Agranulocytic angina 
119D70V108영아 유전성 무과립구증Infantile genetic agranulocytosis 
120D70V108코스트만병Kostmann’s disease 
121D70V108호중구감소 NOSNeutropenia NOS 
122D70V108선천성 호중구감소Congenital neutropenia 
123D70V108순환성 호중구감소Cyclic neutropenia 
124D70V108주기성 호중구감소Periodic neutropenia 
125D70V108비장성(원발성)호중구감소Splenin (primary) neutropenia 
126D70V108독성 호중구감소Toxic neutropenia 
127D70V108호중구감소성 비장비대Neutropenic splenomegaly 
16128D71V109다형핵호중구의 기능장애Functional disorders of polymorphonuclear neutrophils 
129D71V109세포막수용체복합체[CR3]결손Cell membrane receptor complex [CR3] defect 
130D71V109만성 (소아기) 육아종성 질환Chronic (childhood) granulomatous disease 
131D71V109선천성 이상식작용증Congenital dysphagocytosis 
132D71V109진행성 패혈성 육아종증Progressive septic granulomatosis 
17133D76.1V110혈구탐식성 림프조직구증Haemophagocytic lymphohistiocytosis 
134D76.1V110가족성 혈구탐식세망증Familial haemophagocytic reticulosis 
135D76.1V110단핵탐식세포의 조직구증Histiocytoses of mononuclear phagocytes 
136D76.3V110기타 조직구증증후군Other histiocytosis syndromes 
137D76.3V110세망조직구종(거대세포)Reticulohistiocytoma(giant-cell) 
138D76.3V110심한 림프선병증을 동반한 동조직구증Sinus histiocytosis with massive lymph- adenopathy 
139D76.3V110황색육아종Xanthogranuloma 
18140D80V111항체결손이 현저한 면역결핍Immunodeficiency with predominantly antibody defects 
141D80.0V111유전성 저감마글로불린혈증Hereditary hypogammaglobulinaemia 
142D80.0V111보통염색체열성 무감마글로불린혈증(스위스형)Autosomal recessive agammaglobulinaemia (Swiss type) 
143D80.0V111X-연관무감마글로불린혈증[브루톤](성장호르몬결핍을 동반)X-linked agammaglobulinaemia [Bruton] (with growth hormone deficiency) 
144D80.1V111비가족성 저감마글로불린혈증Nonfamilial hypogammaglobulinaemia 
145D80.1V111면역글로불린을 지닌 B-림프구가 있는 무감마글로불린혈증Agammaglobulinaemia with immunoglobulin-bearing B-lymphocytes 
146D80.1V111공통가변성 무감마글로불린혈증Common variable agammaglobulinaemia [CVAgamma] 
147D80.1V111저감마글로불린혈증 NOSHypogammaglobulinaemia NOS 
148D80.2V111면역글로불린A의 선택적 결핍Selective deficiency of immunoglobulin A[IgA] 
149D80.3V111면역글로불린G 서브클래스의 선택적 결핍Selective deficiency of immunoglobulin G [IgG] subclasses 
150D80.4V111면역글로불린M의 선택적 결핍Selective deficiency of immunoglobulin M[IgM] 
151D80.5V111면역글로불린M의 증가를 동반한 면역결핍Immunodeficiency with increased immunoglobulin M[IgM] 
152D80.6V111거의 정상의 면역글로불린 또는 고면역글로불린혈증을 동반한 항체결핍Antibody deficiency with near-normal immunoglobulins or with hyperimmunoglobulinaemia 
153D80.7V111영아기의 일과성 저감마글로불린혈증Transient hypogammaglobulinaemia of infancy 
154D80.8V111항체결손이 현저한 기타 면역결핍Other immunodeficiencies with predominantly antibody defects 
155D80.8V111카파경쇄결핍Kappa light chain deficiency 
156D80.9V111상세불명의 항체결손이 현저한 면역결핍Immunodeficiency with predominantly antibody defects, unspecified 
157D81V111복합면역결핍Combined immunodeficiencies 
158D81.0V111세망세포발생이상을 동반한 중증복합면역결핍Severe combined immunodeficiency [SCID] with reticular dysgenesis 
159D81.1V111T- 및 B-세포수가 감소된 중증복합면역결핍Severe combined immunodeficiency [SCID] with low T-and B-cell numbers 
160D81.2V111B-세포수가 정상이거나 감소된 중증복합면역결핍Severe combined immunodeficiency [SCID] with low or normal B-cell numbers 
161D81.3V111아데노신탈아미노효소결핍Adenosine deaminase[ADA] deficiency 
162D81.4V111네젤로프증후군Nezelof’s syndrome 
163D81.5V111퓨린뉴클레오사이드인산화효소결핍Purine nucleoside phosphorylase[PNP] deficiency 
164D81.6V111주조직적합성복합체I형결핍Major histocompatibility complex class I deficiency 
165D81.6V111노출림프구증후군Bare lymphocyte syndrome 
166D81.7V111주조직적합성복합체Ⅱ형결핍Major histocompatibility complex class Ⅱ deficiency 
167D81.8V111기타 복합면역결핍Other combined immunodeficiencies 
168D81.8V111바이오틴-의존카복실레이스결핍Biotin-dependent carboxylase deficiency 
169D81.9V111상세불명의 복합면역결핍Combined immunodeficiency, unspecified 
170D81.9V111중증복합면역결핍장애 NOSSevere combined immunodeficiency disorder [SCID]) NOS 
171D82V111기타 주요 결손과 관련된 면역결핍Immunodeficiency associated with other major defects 
172D82.0V111비스코트-얼드리치증후군Wiskott-Aldrich syndrome 
173D82.0V111혈소판감소 및 습진을 동반한 면역결핍Immunodeficiency with thrombocy- topenia and eczema 
174D82.1V111디죠지증후군Di George’s syndrome 
175D82.1V111인두낭증후군Pharyngeal pouch syndrome 
176D82.1V111흉선성 림프조직무형성Thymic alymphoplasia 
177D82.1V111면역결핍을 동반한 흉선무형성 또는 형성저하Thymic aplasia or hypoplasia with immunodeficiency 
178D82.2V111짧은사지체구를 동반한 면역결핍Immunodeficiency with short-limbed stature 
179D82.3V111엡스타인-바르바이러스에 대한 유전성 결손반응에 따른 면역결핍Immunodeficiency following hereditary defective response to Epstein-Barr virus 
180D82.3V111X-연관 림프증식성 질환X-linked lymphoproliferative disease 
181D82.4V111고면역글로불린E증후군Hyperimmunoglobulin E [IgE] syndrome 
182D82.8V111기타 명시된 주요 결손과 관련된 면역결핍Immunodeficiency associated with other specified major defects 
183D82.9V111상세불명의 주요 결손과 관련된 면역결핍Immunodeficiency associated with major defect, unspecified 
184D83V111공통 가변성 면역결핍Common variable immunodeficiency 
185D83.0V111B-세포 수 및 기능의 현저한 이상에 의한 공통 가변성 면역결핍Common variable immunodeficiency with predominant abnormalities of B-cell numbers and function 
186D83.1V111현저한 면역조절T-세포장애에 의한 공통 가변성 면역결핍Common variable immunodeficiency with predominant immunoregulatory T-cell disorders 
187D83.2V111B- 또는 T-세포에 대한 자가항체를 동반한 공통 가변성 면역결핍Common variable immunodeficiency with autoantibodies to B-or T-cells 
188D83.8V111기타 공통 가변성 면역결핍Other common variable immunodeficiencies 
189D83.9V111상세불명의 공통 가변성 면역결핍Common variable immunodeficiency, unspecified 
190D84V111기타 면역결핍Other immunodeficiencies 
191D84.0V111림프구기능항원-1결손Lymphocyte function antigen-1[LFA-1] defect 
192D84.1V111보체계통의 결손Defects in the complement system 
193D84.1V111C1에스터레이스억제인자결핍C1 esterase inhibitor[C1-INH] deficiency 
194D84.8V111기타 명시된 면역결핍Other specified immunodeficiencies 
195D84.9V111상세불명의 면역결핍Immunodeficiency, unspecified 
19196D86V111사르코이드증Sarcoidosis 
197D86.0V111폐의 사르코이드증Sarcoidosis of lung 
198D86.1V111림프절의 사르코이드증Sarcoidosis of lymph nodes 
199D86.2V111림프절의 사르코이드증을 동반한 폐의 사르코이드증Sarcoidosis of lung with sarcoidosis of lymph nodes 
200D86.3V111피부의 사르코이드증Sarcoidosis of skin 
201D86.8V111기타 및 복합부위의 사르코이드증Sarcoidosis of other and combined sites 
202D86.8V111사르코이드증에서의 홍채섬모체염Iridocyclitis in sarcoidosis(H22.1*) 
203D86.8V111사르코이드증에서의 다발성 뇌신경마비Multiple cranial nerve palsies in sarcoidosis(G53.2*) 
204D86.8V111사르코이드관절병증Sarcoid arthropathy(M14.8*) 
205D86.8V111사르코이드심근염Sarcoid myocarditis(I41.8*) 
206D86.8V111사르코이드근염Sarcoid myositis(M63.3*) 
207D86.8V111포도막귀밑샘열Uveoparotid fever[Heerfordt] 
208D86.9V111상세불명의 사르코이드증Sarcoidosis, unspecified 
20209E22.0V112말단비대증 및 뇌하수체거인증Acromegaly and pituitary gigantism 
210E22.0V112말단비대증과 관련된 관절병증Arthropathy associated with acromegaly(M14.5*) 
211E22.0V112성장호르몬의 과잉생산Overproduction of growth hormone 
21212E23.0V165콜만증후군Kallmann’s syndrome 
213E23.0V165쉬한증후군Sheehan’s syndrome 
22214E24.0V114뇌하수체-의존 쿠싱병Pituitary-dependent Cushing’s disease 
215E24.0V114뇌하수체 부신피질자극호르몬의 과다생산Overproduction of pituitary ACTH 
216E24.0V114뇌하수체-의존 부신피질기능항진증Pituitary-dependent hyperadrenocorticism 
217E24.1V114넬슨증후군Nelson’s syndrome 
218E24.3V114이소성 부신피질자극호르몬증후군Ectopic ACTH syndrome 
23219E25V115부신생식기장애Adrenogenital disorders 
220E25.0V115효소결핍과 관련된 선천성 부신생식기장애Congenital adrenogenital disorders associated with enzyme deficiency 
221E25.0V115선천성 부신증식증Congenital adrenal hyperplasia 
222E25.0V11521-수산화효소결핍21-Hydroxylase deficiency 
223E25.0V115염류소실 선천성 부신증식증Salt-losing congenital adrenal hyperplasia 
224E25.8V115기타 부신생식기장애Other adrenogenital disorders 
225E25.8V115특발성 부신생식기장애Idiopathic adrenogenital disorder 
226E25.9V115상세불명의 부신생식기장애Adrenogenital disorder, unspecified 
227E25.9V115부신생식기증후군 NOSAdrenogenital syndrome NOS 
24228E27.1V116원발성 부신피질부전Primary adrenocortical insufficiency 
229E27.1V116애디슨병Addison’s disease 
230E27.1V116자가면역성 부신염Autoimmune adrenalitis 
231E27.2V116애디슨발증Addisonian crisis 
232E27.2V116부신발증Adrenal crisis 
233E27.2V116부신피질발증Adrenocortical crisis 
234E27.4V116기타 및 상세불명의 부신피질부전Other and unspecified adrenocortical insufficiency 
235E27.4V116부신출혈Adrenal haemorrhage 
236E27.4V116부신경색증Adrenal infarction 
237E27.4V116부신피질부전 NOSAdrenocortical insufficiency NOS 
238E27.4V116저알도스테론증Hypoaldosteronism 
25239E34.8V166기타 명시된 내분비장애Other specified endocrine disorders 
240E34.8V166송과선 기능이상Pineal gland dysfunction 
241E34.8V166조로증Progeria 
26242E55.0V207활동성 구루병Rickets, active 
243E55.0V207영아골연화증Infantile osteomalacia 
244E55.0V207연소성 골연화증Juvenile osteomalacia 
27245E70V117방향족아미노산대사장애Disorders of aromatic amino-acid metabolism 
246E70.0V117고전적 페닐케톤뇨증Classical phenylketonuria특수식이지원
247E70.1V117기타 고페닐알라닌혈증Other hyperphenylalaninaemias 
248E70.2V117타이로신대사장애Disorders of tyrosine metabolism 
249E70.2V117알캅톤뇨증Alkaptonuria 
250E70.2V117고타이로신혈증Hypertyrosinaemia 
251E70.2V117조직흑갈병Ochronosis 
252E70.2V117타이로신혈증Tyrosinaemia 
253E70.2V117타이로신증Tyrosinosis 
254E70.3V117백색증Albinism 
255E70.3V117눈피부백색증Oculocutaneous albinism 
256E70.3V117눈백색증Ocular albinism 
257E70.3V117체디아크(-스타인브링크)-히가시증후군Chediack(-Steinbrinck)-Higashi syndrome 
258E70.3V117교차증후군Cross syndrome 
259E70.3V117헤르만스키-푸들라크증후군Hermansky-Pudlak syndrome 
260E70.8V117방향족아미노산대사의 기타 장애Other disorders of aromatic amino-acid metabolism 
261E70.8V117히스티딘대사장애Disorder of histidine metabolism 
262E70.8V117트립토판대사장애Disorder of tryptophan metabolism 
263E70.9V117방향족아미노산대사의 상세불명 장애Disorder of aromatic amino-acid metabolism, unspecified 
264E71V117측쇄아미노산 및 지방산 대사장애Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism 
265E71.0V117단풍시럽뇨병Maple-syrup-urine disease특수식이지원
266E71.1V117측쇄아미노산대사의 기타 장애Other disorders of branched-chain amino-acid metabolism 
267E71.1V117고류신-이소류신혈증Hyperleucine-isoleucinaemia 
268E71.1V117고발린혈증Hypervalinaemia 
269E71.1V117메틸말론산혈증Methylmalonic acidaemia특수식이지원
269E71.1V117아이소발레린산혈증Isovaleric acidaemia특수식이지원
269E71.1V117프로피온산혈증Propionic acidaemia특수식이지원
272E71.2V117측쇄아미노산대사의 상세불명 장애Disorder of branched-chain amino-acid metabolism, unspecified 
273E71.3V117지방산대사장애Disorders of fatty-acid metabolism간병비지원
274E71.3V117부신백질디스트로피[애디슨-쉴더]Adrenoleukodystrophy[Addison-Schilder]보장구 구입비,
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275E71.3V117근육카르니틴팔미틸트란스퍼레이스결핍Muscle carnitine palmityltransferase deficiency 
276E72V117아미노산대사의 기타 장애Other disorders of amino-acid metabolism 
277E72.0V117아미노산운반장애Disorders of amino-acid transport 
278E72.0V117시스틴증Cystinosis 
279E72.0V117시스틴뇨증Cystinuria 
280E72.0V117판코니(-드토니)(-드브레)증후군Fanconi(-de Toni)(-Debré)syndrome 
281E72.0V117하르트넙병Hartnup’s disease 
282E72.0V117로베증후군Lowe’s syndrome 
283E72.1V117유황함유아미노산대사장애Disorders of sulfur-bearing amino-acid metabolism 
284E72.1V117시스타타이오닌뇨증Cystathioninuria 
285E72.1V117호모시스틴뇨Homocystinuria특수식이지원
286E72.1V117메타이오닌혈증Methioninaemia 
287E72.1V117아황산염산화효소결핍Sulfite oxidase deficiency 
288E72.2V117요소회로대사장애Disorders of urea cycle metabolism특수식이지원
289E72.2V117아르지닌혈증Argininaemia 
290E72.2V117아르지닌숙신산뇨Argininosuccinic aciduria 
291E72.2V117시트룰린혈증Citrullinaemia 
292E72.2V117고암모니아혈증Hyperammonaemia 
293E72.3V117라이신 및 하이드록시라이신 대사장애Disorders of lysine and hydroxylysine metabolism 
294E72.3V117글루타르산뇨Glutaric aciduria 
295E72.3V117하이드록시라이신혈증Hydroxylysinaemia 
296E72.3V117고라이신혈증Hyperlysinaemia 
297E72.4V117오르니틴대사장애Disorders of ornithine metabolism 
298E72.4V117오르니틴혈증(Ⅰ, Ⅱ형)Ornithinaemia (typesⅠ, Ⅱ) 
299E72.5V117글라이신대사장애Disorders of glycine metabolism 
300E72.5V117고하이드록시프롤린혈증Hyperhydroxyprolinaemia 
301E72.5V117고프롤린혈증(Ⅰ, Ⅱ형)Hyperprolinaemia (typesⅠ, Ⅱ) 
302E72.5V117비케톤고글라이신혈증Non-ketotic hyperglycinaemia 
303E72.5V117사르코신혈증Sarcosinaemia 
304E72.8V117아미노산대사의 기타 명시된 장애Other specified disorders of amino-acid metabolism 
305E72.8V117베타아미노산대사장애Disorders of β-amino-acid metabolism 
306E72.8V117감마글루타밀회로의 장애Disorders of γ-glutamyl cycle 
307E72.9V117아미노산대사의 상세불명 장애Disorder of amino-acid metabolism, unspecified 
308E73V117젖당불내성Lactose intolerance 
309E73.0V117선천성 젖당분해효소결핍Congenital lactase deficiency 
310E73.1V117이차성 젖당분해효소결핍Secondary lactase deficiency 
311E73.8V117기타 젖당불내성Other lactose intolerance 
312E73.9V117상세불명의 젖당불내성Lactose intolerance, unspecified 
313E74V117탄수화물대사의 기타 장애Other disorders of carbohydrate metabolism 
314E74.0V117글리코젠축적병Glycogen storage disease보장구 구입비,
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315E74.0V117심장글리코젠증Cardiac glycogenosis
316E74.0V117안데르센병Andersen’s disease
317E74.0V117코리병Cori’s disease
318E74.0V117포르브스병Forbes’ disease
319E74.0V117허스병Hers’ disease
320E74.0V117맥아들병McArdle’s disease
321E74.0V117폼페병Pompe’s disease
322E74.0V117타루이병Tarui’s disease
323E74.0V117폰기에르케병von Gierke’s disease
324E74.0V117간인산화효소결핍Liver phosphorylase deficiency
325E74.1V117과당대사장애Disorders of fructose metabolism 
326E74.1V117본태성 과당뇨Essential fructosuria 
327E74.1V117과당-1, 6-이인산분해효소결핍Fructose-1, 6-diphosphatase deficiency 
328E74.1V117유전성 과당불내성Hereditary fructose intolerance 
329E74.2V117갈락토스대사장애Disorders of galactose metabolism 
330E74.2V117갈락토카이네이스결핍Galactokinase deficiency 
331E74.2V117갈락토스혈증Galactosaemia 
332E74.3V117장성 탄수화물흡수의 기타 장애Other disorders of intestinal carbohydrate absorption 
333E74.3V117포도당-갈락토스흡수장애Glucose-galactose malabsorption 
334E74.3V117수크레이스결핍Sucrase deficiency 
335E74.4V117피루브산염대사 및 포도당신합성 장애Disorders of pyruvate metabolism and gluco- neogenesis 
336E74.4V117포스포에놀피루브산염카르복시카이네이스의 결핍Deficiency of phosphoenol- pyruvate carboxykinase 
337E74.4V117카복실레이스피루브산염의 결핍Deficiency of carboxylase pyruvate 
338E74.4V117탈수소효소피루브산염의 결핍Deficiency of dehydrogenase pyruvate 
339E74.8V117탄수화물대사의 기타 명시된 장애Other specified disorders of carbohydrate metabolism 
340E74.8V117본태성 펜토스뇨Essential pentosuria 
341E74.8V117옥살산증Oxalosis 
342E74.8V117옥살산뇨Oxaluria 
343E74.8V117신장성 당뇨Renal glycosuria 
344E74.9V117탄수화물대사의 상세불명 장애Disorder of carbohydrate metabolism, unspecified 
28345E75.0V117GM₂-강글리오시드증GM₂-gangliosidosis 
346E75.0V117샌드호프병Sandhoff’s disease 
347E75.0V117테이-삭스병Tay-Sachs’ disease 
348E75.0V117GM₂-강글리오시드증 NOSGM₂gangliosidosis NOS 
349E75.0V117성인형 GM₂-강글리오시드증Adult GM₂gangliosidosis 
350E75.0V117연소형 GM₂-강글리오시드증Juvenile GM₂gangliosidosis 
351E75.1V117기타 강글리오시드증Other gangliosidosis 
352E75.1V117강글리오시드증 NOSGangliosidosis NOS 
353E75.1V117GM₁-강글리오시드증GM₁-gangliosidosis 
354E75.1V117GM₃-강글리오시드증GM₃-gangliosidosis 
355E75.1V117뮤코지질증 ⅣMucolipidosis Ⅳ 
356E75.2V117기타 스핑고리피드증Other sphingolipidosis간병비지원
357E75.2V117패프리(-앤더슨)병Fabry’s(-Anderson) disease 
358E75.2V117고쉐병Gaucher’s disease 
359E75.2V117크라베병Krabbe’s disease간병비지원
360E75.2V117니만-픽병Niemann-Pick’s disease 
361E75.2V117화버증후군Farber’s syndrome 
362E75.2V117이염성 백질디스트로피Metachromatic leukodystrophy 
363E75.2V117설파테이스결핍Sulfatase deficiency 
364E75.4V117신경세포세로이드라이포푸스신증Neuronal ceroid lipofuscinosis 
365E75.4V117바텐병Batten’s disease 
366E75.4V117얀스키-빌쇼스키병Jansky-Bielschowsky’s disease 
367E75.4V117쿠프스병Kufs’ disease 
368E75.4V117스필마이어-보그트병Spielmeyer-Vogt’s disease 
369E75.5V117기타 지질축적장애Other lipid storage disorders 
370E75.5V117대뇌건의 콜레스테롤증[밴보게르트-쉐러-엡스타인]Cerebrotendinous cholesterosis [van Bogaert-Scherer-Epstein] 
371E75.5V117월만병Wolman’s disease 
29372E76V117글리코사미노글라이칸대사장애Disorders of glycosaminoglycan meta- bolism보장구 구입비,
호흡보조기,
기침유발기,
간병비 지원
373E76.0V117Ⅰ형 점액다당류증Mucopolysaccharidosis, type Ⅰ
374E76.0V117헐러증후군Hurler syndrome
375E76.0V117헐러-샤이에증후군Hurler-Scheie syndrome
376E76.0V117샤이에증후군Scheie syndrome
377E76.1V117Ⅱ형 점액다당류증Mucopolysaccharidosis, type Ⅱ
378E76.1V117헌터증후군Hunter’s syndrome
379E76.2V117기타 점액다당류증Other mucopolysaccharidoses
380E76.2V117베타-글루쿠론산분해효소결핍β-Glucuronidase deficiency
381E76.2V117Ⅲ, Ⅳ, Ⅵ, Ⅶ형 점액다당류증Mucopolysaccharidosis, types Ⅲ, Ⅳ, Ⅵ, Ⅶ
382E76.2V117마로토-라미 (경도)(중증) 증후군Maroteaux-Lamy (mild)(severe) syndrome
383E76.2V117모르키오 (-유사)(고전적) 증후군Morquio(-like)(classic) syndrome
384E76.2V117산필립포 (B형)(C형)(D형) 증후군Sanfilippo (types B)(type C)(type D) syndrome
385E76.3V117상세불명의 점액다당류증Mucopolysaccharidosis, unspecified
386E76.8V117글루코사미노글라이칸대사의 기타 장애Other disorders of glucosaminoglycan metabolism
387E76.9V117글루코사미노글라이칸대사의 상세불명 장애Disorders of glucosaminoglycan metabolism, unspecified
30388E77V117당단백질대사장애Disorders of glycoprotein metabolism 
389E77.0V117라이소솜효소의 번역후 수정의 결손Defects in post-translational modification of lysosomal enzymes 
390E77.0V117뮤코지질증Ⅱ[Ⅰ-세포병]Mucolipidosis Ⅱ[Ⅰ-cell disease] 
391E77.0V117뮤코지질증Ⅲ[거짓헐러다발디스트로피]Mucolipidosis Ⅲ [Pseudo-Hurler polydystrophy] 
392E77.1V117당단백질분해의 결손Defects in glycoprotein degradation 
393E77.1V117아스파르틸글루코사민뇨Aspartylglucosaminuria 
394E77.1V117푸고스축적증Fucosidosis 
395E77.1V117마노스축적증Mannosidosis 
396E77.1V117시알산증[뮤코지질증Ⅰ]Sialidosis[mucolipidosisⅠ] 
397E77.8V117당단백질대사의 기타 장애Other disorders of glycoprotein metabolism 
398E77.9V117당단백질대사의 상세불명 장애Disorder of glycoprotein metabolism, unspecified 
31399E79.1V221레쉬-니한증후군Lesch-Nyhan syndrome 
32400E80.2V118기타 포르피린증Other porphyria 
401E80.2V118유전성 코프로포르피린증Hereditary coproporphyria 
402E80.2V118포르피린증 NOSSelective deficiency of immunoglobulin A[IgA] 
403E80.2V118급성 간헐성 (간성) 포르피린증Acute intermittent(hepatic) porphyria 
33404E83.0V119구리대사장애Disorders of copper metabolism 
405E83.0V119멘케스(꼬인모발)( 강모)병)Menkes (kinky hair)(steely hair) disease 
406E83.0V119윌슨병Wilson’s disease 
34407E83.3V189인대사 및 인산분해효소 장애Disorders of phosphorus metabolism
and phosphatases
 
408E83.3V189산성인산분해효소결핍Acid phosphatase deficiency 
409E83.3V189가족성 저인산혈증Familial hypophosphataemia 
410E83.3V189저인산효소증Hypophosphatasia 
411E83.3V189비타민D저항골연화증Vitamin-D-resistant osteomalacia 
412E83.3V189비타민D저항구루병Vitamin-D-resistant rickets 
35413E84V120낭성 섬유증Cystic fibrosis 
414E84.0V120폐증상을 동반한 낭성 섬유증Cystic fibrosis with pulmonary manifestations 
415E84.1V120장증상을 동반한 낭성 섬유증Cystic fibrosis with intestinal manifestations 
416E84.1V120낭성 섬유증에서의 태변장폐색Meconium ileus in cystic fibrosis(P75*) 
417E84.8V120기타 증상을 동반한 낭성 섬유증Cystic fibrosis with other manifestations 
419E84.9V120상세불명의 낭성 섬유증Cystic fibrosis, unspecified 
36420E85V121아밀로이드증Amyloidosis 
421E85.0V121비신경병성 유전가족성 아밀로이드증Non-neuropathic heredofamilial amyloidosis 
422E85.0V121가족성 지중해열Familial Mediterranean fever 
423E85.0V121유전성 아밀로이드 신장병증Hereditary amyloid nephropathy 
424E85.1V121신경병성 유전가족성 아밀로이드증Neuropathic heredofamilial amyloidosis 
425E85.1V121아밀로이드다발신경병증(포르투갈)Amyloid polyneuropathy(Portuguese) 
426E85.2V121상세불명의 유전가족성 아밀로이드증Heredofamilial amyloidosis, unspecified 
427E85.3V121이차성 전신아밀로이드증Secondary systemic amyloidosis 
428E85.3V121혈액투석-연관 아밀로이드증Haemodialysis-associated amyloidosis 
429E85.4V121기관한정아밀로이드증Organ-limited amyloidosis 
430E85.4V121국소적 아밀로이드증Localized amyloidosis 
431E85.8V121기타 아밀로이드증Other amyloidosis 
432E85.9V121상세불명의 아밀로이드증Amyloidosis, unspecified 
37433F84.2V122레트증후군Rett’s syndrome간병비지원
38434G10V123헌팅톤병Huntington’s disease 
435G10V123헌팅톤무도병Huntington’s chorea 
436G11V123유전성 운동실조Hereditary ataxia보장구 구입비,
호흡보조기,
기침유발기,
간병비 지원
437G11.0V123선천성 비진행성 운동실조Congenital nonprogressive ataxia
438G11.1V123조기발병 소뇌성 운동실조Early-onset cerebellar ataxia
439G11.1V123본태성 떨림을(를) 동반한 조기발병 소뇌성 운동실조Early-onset cerebellar ataxia with essential tremor
440G11.1V123마이오클로누스[헌트운동실조]을(를) 동반한 조기발병
소뇌성 운동실조
Early-onset cerebellar ataxia with myoclonus[Hunt’s ataxia]
441G11.1V123보류된 건반사을(를) 동반한 조기발병 소뇌성 운동실조Early-onset cerebellar ataxia with retained tendon reflexes
442G11.1V123프리드라이히운동실조(보통염색체열성)Friedreich’s ataxia(autosomal recessive)
443G11.1V123X-연관 열성 척수소뇌성 운동실조X-linked recessive spinocerebellar ataxia
444G11.2V123만기발병 소뇌성 운동실조Late-onset cerebellar ataxia
445G11.3V123DNA복구결손을 수반한 소뇌성 운동실조Cerebellar ataxia with defective DNA repair
446G11.3V123모세혈관확장성 운동실조[루이-바]Ataxia telangiectasia[Louis-bar]
447G11.4V123유전성 강직성 하반신마비Hereditary spastic paraplegia
448G11.8V123기타 유전성 운동실조Other hereditary ataxias
449G11.9V123상세불명의 유전성 운동실조Hereditary ataxia, unspecified
450G11.9V123유전성 소뇌의 운동실조 NOSHereditary cerebellar aataxia NOS
451G11.9V123유전성 소뇌의 변성Hereditary cerebellar degeneration
452G11.9V123유전성 소뇌의 병Hereditary cerebellar disease
453G11.9V123유전성 소뇌의 증후군Hereditary cerebellar syndrome
454G12V123척수성 근위축 및 관련 증후군Spinal muscular atrophy and related syndromes
455G12.0V123영아척수성 근위축, I형[베르드니히-호프만]Infantile spinal muscular atrophy, type Ⅰ[Werdnig-Hoffman]
456G12.1V123기타 유전성 척수성 근위축Other inherited spinal muscular atrophy
457G12.1V123소아기의 진행성 연수마비[파지오-론데]Progressive bulbar palsy of childhood [Fazio-Londe]
458G12.1V123성인형 척수성 근위축Adult form spinal muscular atrophy
459G12.1V123소아형, Ⅱ형 척수성 근위축Childhood form, type Ⅱ spinal muscular atrophy
460G12.1V123원위 척수성 근위축Distal spinal muscular atrophy
461G12.1V123연소형, Ⅲ형[쿠겔베르그-벨란더] 척수성 근위축Juvenile form, typeⅢ [Kugelberg-Welander] spinal muscular atrophy
462G12.1V123어깨종아리형 척수성 근위축Scapuloperoneal form spinal muscular atrophy
463G12.2V123운동신경세포병Motor neuron disease
464G12.20V123가족성 근위축측삭경화증Familial amyotrophic lateral sclerosis
465G12.21V123산발형 근위축측삭경화증Sporadic amyotrophic lateral sclerosis
466G12.22V123원발성 측삭경화증Primary lateral sclerosis
467G12.23V123진행성 연수마비Progressive bulbar palsy
468G12.24V123진행성 근위축Progressive muscular atrophy
469G12.25V123X-연관척수연수근위측X-linked spinobular muscular atrophy
470G12.27V123기타 유전성 운동신경세포병Other genentic or hereditary motor neuron disease
471G12.8V123기타 척수성 근위축 및 관련 증후군Other spinal muscular atrophies and related syndromes
472G12.9V123상세불명의 척수성 근위축Spinal muscular atrophy, unspecified
473G13V123달리 분류된 질환에서의 일차적으로 중추신경계통에
영향을 주는 계통성 위축
Systemic atrophies primarily affecting central nervous system in diseases classified elsewhere 
474G13.0V123신생물딸림 신경근육병증 및 신경병증Paraneoplastic neuromyopathy and neuropathy 
475G13.0V123암종성 신경근육병증Carcinomatous neuromyopathy 
476G13.0V123감각성 종양딸림 신경병증[데니브라운]Sensorial paraneopastic neuropathy [Denny Brown] 
477G13.1V123신생물질환에서 일차적으로 중추신경계통을 침범하는 기타 계통성 위축Other systemic atrophy primarily affecting central nervous system in neoplastic disease 
478G13.1V123신생물딸림 변연부뇌병증Paraneoplastic limbic encephalopathy 
479G13.2V123점액부종에서 일차적으로 중추신경계통을 침범하는 계통성 위축Systemic atrophy primarily affecting central nervous system in myxoedema 
480G13.8V123달리 분류된 기타 질환에서 일차적으로 중추신경계통을 침범하는 계통적 위축Systemic atrophy primarily affecting central nervous system in other diseases classified elsewhere 
39481G20V124파킨슨병Parkinson’s disease지체장애 3급
또는
뇌병변장애 3급
이상만 지원가능
482G20V124편측파킨슨증Hemiparkinsonism
483G20V124떨림마비Paralysis agitans
484G20V124파킨슨증 또는 파킨슨병 NOSParkinsonism or Parkinson’s disease NOS
485G20V124특발성 파킨슨증 또는 파킨슨병Idiopathic Parkinsonism or Parkinson’s disease
486G20V124원발성 파킨슨증 또는 파킨슨병Primary Parkinsonism or Parkinson’s disease
40487G23.1V190진행성 핵상안근마비 [스틸-리차드슨-올스제위스키]Progressive supranuclear ophthalmoplegia [Steele-Richardson-Olszewski] 
41488G31.81V208아급성 괴사성 뇌병증[리이]Subacute necrotizing encephalopathy[Leigh] 
42489G35V022다발경화증Multiple sclerosis보장구 구입비,
호흡보조기,
기침유발기,
간병비 지원
490G35V022다발경화증 NOSMultiple sclerosis (of) NOS
491G35V022뇌간(~의) 다발경화증Multiple sclerosis (of) brain stem
492G35V022척수(~의) 다발경화증Multiple sclerosis (of) cord
493G35V022파종성(~의) 다발경화증Multiple sclerosis (of) disseminated
494G35V022전신성(~의) 다발경화증Multiple sclerosis (of) generalized
43495G40.4V233레녹스-가스토증후군Lennox-Gastaut syndrome 
496G40.40V233난치성 뇌전증을 동반하지 않은 레녹스-가스토증후군Lennox-Gastaut syndrome without intractable epilepsy 
497G40.41V233난치성 뇌전증을 동반한 레녹스-가스토증후군Lennox-Gastaut syndrome with intractable epilepsy 
44498G41V125뇌전증지속상태Status epilepticus 
499G41.0V125대발작 뇌전증지속상태Grand mal status epilepticus 
500G41.0V125긴장-간대성 뇌전증지속상태Tonic-clonic status epilepticus 
501G41.1V125소발작뇌전증지속상태Petit mal status epilepticus 
502G41.1V125뇌전증 압상스지속상태Epileptic absence statu 
503G41.2V125복합부분뇌전증지속상태Complex partial status epilepticus 
504G41.8V125기타 뇌전증지속상태Other status epilepticus 
505G41.9V125상세불명의 뇌전증지속상태Status epilepticus, unspecified 
45506G51.2V167멜케르손-로젠탈증후군Melkersson-Rosenthal syndrome 
46507G56.4V168복합부위통증증후군 Ⅱ형Complex regional pain syndrome typeⅡ 
508G56.4V168작열통Causalgia 
47509G60.0V169유전성 운동 및 감각 신경병증Hereditary motor and sensory neuropathy 
510G60.0V169샤르코-마리-투스질환Charcot-Marie-Tooth disease보장구 구입비,
호흡보조기,
기침유발기,
간병비 지원
511G60.0V169데제린-소타스병Déjerine-Sottas disease 
512G60.0V169유전성 운동 및 감각 신경병증 I-IV형Hereditary motor and sensory neuropathy, types I-IV 
513G60.0V169영아기의 비대성 신경병증Hypertrophic neuropathy of infancy 
514G60.0V169비골근위축(축삭형, 비대형)Peroneal muscular atrophy(axonal type, hypertrophic type) 
515G60.0V169루시-레비증후군Roussy-Lévy syndrome 
48516G61V126염증성 다발신경병증Inflammatory polyneuropathy 
517G61.0V126길랭-바레증후군Guillain-Barré syndrome보장구 구입비,
호흡보조기,
기침유발기,
간병비 지원
518G61.0V126급성 감염(후) 다발신경염Acute (post-) infective polyneuritis 
519G61.1V126혈청신경병증Serum neuropathy 
520G61.8V126기타 염증성 다발신경병증Other inflammatory polyneuropathies 
521G61.9V126상세불명의 염증성 다발신경병증Inflammatory polyneuropathy, unspecified 
49522G63.0V170달리 분류된 감염성 및 기생충성 질환에서의 다발신경병증Polyneuropathy ininfectious and parasitic diseases classified elsewhere 
523G63.0V170디프테리아(~에서의) 다발신경병증Polyneuropathy (in) diphtheria 
524G63.0V170감염성 단핵구증(~에서의) 다발신경병증Polyneuropathy (in) infectious mononucleosis 
525G63.0V170나병(~에서의) 다발신경병증Polyneuropathy (in) leprosy 
526G63.0V170라임병(~에서의) 다발신경병증Polyneuropathy (in) lyme disease 
527G63.0V170볼거리(~에서의) 다발신경병증Polyneuropathy (in) mumps 
528G63.0V170포진후(~에서의) 다발신경병증Polyneuropathy (in) postherpetic 
529G63.0V170만기매독(~에서의) 다발신경병증Polyneuropathy (in) syphilis, late 
530G63.0V170만기선천매독(~에서의) 다발신경병증Polyneuropathy (in) congenital syphilis, late 
531G63.0V170결핵(~에서의) 다발신경병증Polyneuropathy (in) tuberculous 
50532G70.0V012중증근무력증Myasthenia gravis호흡보조기,
기침유발기 지원
533G70.1V012독성근신경장애Toxic myoneural disorders 
534G70.2V012선천성 및 발달성 근무력증Congenital and developmental myasthenia 
51535G71V012근육의 원발성 장애Primary disorders of muscles보장구 구입비,
호흡보조기,
기침유발기,
간병비 지원
536G71.0V012근디스트로피Muscular dystrophy
537G71.0V012뒤쉔 또는 베커와 유사한 보통염색체열성, 소아형 근디스트로피Autosomal recessive, childhood type, resembling Duchenne or Becker muscular dystrophy
538G71.0V012양성[베커] 근디스트로피Benign [Becker] muscular dystrophy
539G71.0V012조기수축을 동반하는 양성 어깨종아리[에머리-드라이프스] 근디스트로피Benign scapuloperoneal with early contractures [Emery-Dreifuss] muscular dystrophy
540G71.0V012원위성 근디스트로피Distal muscular dystrophy
541G71.0V012얼굴어깨팔 근디스트로피Facioscapulohumeral muscular dystrophy
542G71.0V012지대 근디스트로피Limb-girdle muscular dystrophy
543G71.0V012눈 근디스트로피Ocular muscular dystrophy
544G71.0V012눈인두성 근디스트로피Oculopharyngeal muscular dystrophy
545G71.0V012어깨종아리 근디스트로피Scapuloperoneal muscular dystrophy
546G71.0V012중증[뒤쉔] 근디스트로피Severe[Duchenne] muscular dystrophy
547G71.1V012근긴장장애Myotonic disorders
548G71.1V012근긴장디스트로피[스타이너트]Dystrophia myotonica[Steinert]
549G71.1V012연골형성장애성 근긴장증Chondrodystrophic myotonia
550G71.1V012약물유발 근긴장증Drug-induced myotonia
551G71.1V012증상성 근긴장증Symptomatic myotonia
552G71.1V012선천성 근긴장증 NOSMyotonia congenita NOS
553G71.1V012우성[톰슨] 선천성 근긴장증Dominant[Thomsen] myotonia congenita
554G71.1V012열성[베커] 선천성 근긴장증Recessive[Becker] myotonia congenita
555G71.1V012신경근육긴장[아이작스]Neuromyotonia[Isaacs]
556G71.1V012선천성 이상근긴장증Paramyotonia congenita
557G71.1V012거짓근긴장증Pseudomyotonia
558G71.2V012선천성 근병증Congenital myopathies
559G71.2V012선천성 근디스트로피 NOSCongenital muscular dystrophy NOS
560G71.2V012근섬유의 특정 형태이상을 동반한 선천성 근디스트로피Congenital muscular dystrophy with specific morphological abnormalities of the muscle fibre(G71.2)
561G71.2V012중심핵 병Central core disease
562G71.2V012미세심 병Minicore disease
563G71.2V012다발심 병Multicore disease
564G71.2V012근섬유형 불균형Fibre-type disproportion
565G71.2V012근세관성 (중심핵성) 근병증Myotubular (centronuclear) myopathy
566G71.2V012네말린근병증Nemaline myopathy
567G71.3V012달리 분류되지 않은 미토콘드리아근병증Mitochondrial myopathy, NEC
568G71.8V012근육의 기타 원발성 장애Other primary disorders of muscles
569G71.9V012근육의 상세불명의 원발성 장애Primary disorder of muscle, unspecified
570G71.9V012유전성 근병증 NOSHereditary myopathy NOS
52571G90.8V171자율신경계통의 기타 장애Other disorders of autonomic nervous system 
53572G95.0V172척수공동증 및 연수공동증Syringomyelia and syringobulbia 
54573H35.31V201노년성 황반변성(삼출성)Senile macular degeneration (exudative)3개월이상 시력이
0.2이하인
경우로 제한
55574H35.51V209색소망막염Retinitis pigmentosa 
575H35.58V209스타르가르트병Stargardt’s disease 
56576I27.0V202원발성 폐동맥고혈압Primary pulmonary hypertension 
57577I27.8V226아이젠멘거복합Eisenmenger’s complex 
578I27.8V226아이젠멘거증후군Eisenmenger’s syndrome 
58579I42.0V127확장성 심근병증Dilated cardiomyopathy 
580I42.0V127울혈성 심근병증Congestive cardiomyopathy 
581I42.1V127폐색성 비대성 심근병증Obstructive hypertrophic cardiomyopathy 
582I42.1V127비대성 대동맥하협착Hypertrophic subaortic stenosis 
583I42.2V127기타 비대성 심근병증Other hypertrophic cardiomyopathy 
584I42.2V127비폐색성 비대성 심근병증Nonobstructive hypertrophic cardiomyopathy 
585I42.3V127심내막심근(호산구성)병Endomyocardial(eosinophilic) disease 
586I42.3V127심내막심근(열대성)섬유증Endomyocardial(tropical) fibrosis 
587I42.3V127뢰플러심내막염Loffler’s endocarditis 
588I42.4V127심내막탄력섬유증Endocardial fibroelastosis 
589I42.4V127선천성 심근병증Congenital cardiomyopathy 
590I42.5V127기타 제한성 심근병증Other restrictive cardiomyopathy 
591I42.5V127협착성 심근병증 NOSConstrictive cardiomyopathy NOS 
59592I67.5V128모야모야병Moyamoya disease 
60593I73.1V129폐색혈전혈관염[버거병]Thromboangiitis obliterans[Buerger] 
61594I78.0V235랑뒤-오슬러-웨버병Rendu-Osler-Weber disease 
62595I82.0V173버드-키아리증후군Budd-Chiari syndrome 
63596J84.0V222폐포단백질증Alveolar proteinosis 
597J84.18V236특발성 폐섬유증Idiopathic pulmonary fibrosis호흡보조기,
기침유발기 지원
64598K50V130크론병[국소성 장염]Crohn’s disease[regional enteritis] 
599K50.0V130소장의 크론병Crohn’s disease of small intestine 
600K50.0V130십이지장의 크론병[국소성 장염]Crohn’s disease [regional enteritis] of duodenum 
601K50.0V130회장의 크론병[국소성 장염]Crohn’s disease [regional enteritis] of ileum 
602K50.0V130공장의 크론병[국소성 장염]Crohn’s disease [regional enteritis] of jejunum 
603K50.0V130국소성 회장염Regional ileitis 
604K50.0V130종말 회장염Terminal ileitis 
605K50.1V130대장의 크론병Crohn’s disease of large intestine 
606K50.1V130육아종성 결장염Granulomatous colitis 
607K50.1V130국소성 결장염Regional colitis 
608K50.1V130결장의 크론병[국소성 장염]Crohn’s disease [regional enteritis] of colon 
609K50.1V130대장의 크론병[국소성 장염]Crohn’s disease [regional enteritis] of large bowel 
610K50.1V130직장의 크론병[국소성 장염]Crohn’s disease [regional enteritis] of rectum 
611K50.8V130기타 크론병Other Crohn’s disease 
612K50.8V130소장 및 대장 모두의 크론병Crohn’s disease of both small and large intestine 
613K50.9V130상세불명의 크론병Crohn’s disease, unspecified 
614K50.9V130크론병 NOSCrohn’s disease NOS 
615K50.9V130국소성 장염 NOSRegional enteritis NOS 
65616K51V131궤양성 대장염Ulcerative colitis 
617K51.0V131궤양성 (만성) 범결장염Ulcerative (chronic) pancolitis 
618K51.2V131궤양성 (만성) 직장염Ulcerative (chronic) proctitis 
619K51.3V131궤양성 (만성) 직장구불결장염Ulcerative (chronic) rectosigmoiditis 
620K51.4V131염증성 폴립Inflammatory polyps 
621K51.5V131좌측 결장염Left side colitis 
622K51.8V131기타 궤양성 대장염Other ulcerative colitis 
623K51.9V131상세불명의 궤양성 대장염Ulcerative colitis, unspecified 
66624K74.3V174원발성 담즙성 경변증Primary biliary cirrhosis 
625K74.3V174만성 비화농성 파괴성 담관염Chronic nonsuppurative destructive cholangitis 
67626K75.4V175자가면역성 간염Autoimmune hepatitis 
68627L10.0V132보통천포창Pemphigus vulgaris 
69628L10.2V210낙엽천포창Pemphigus foliaceus 
70629L12.0V211수포성 유사천포창Bullous pemphigoid 
71630L12.1V212흉터유사천포창Cicatricial pemphigoid 
631L12.1V212양성 점막유사천포창Benign mucous membrane pemphigoid 
72632L12.3V176후천성 수포성 표피박리증Acquired epidermolysis bullosa 
73633M07.20V237건선척추염, 여러 부위Psoriatic sponlylitis, multiple sites 
634M07.28V237건선척추염, 기타 부분(머리, 목, 늑골, 두개골, 몸통, 척주)Psoriatic sponlylitis, other(head, neck, ribs, skull, trunk, vertebral column) 
74635M08.0V133연소성 류마티스관절염Juvenile rheumatoid arthritis
636M08.0V133류마티스인자가 있거나 없는 연소성 류마티스관절염Juvenile rheumatoid arthritis with or without rheumatoid factor 
637M08.1V133연소성 강직척추염Juvenile ankylosing spondylitis 
638M08.2V133전신적으로 발병된 연소성 관절염Juvenile arthritis with systemic onset 
639M08.2V133스틸병 NOSStill’s disease NOS 
640M08.3V133(혈청검사음성인) 연소성 다발관절염Juvenile polyarthritis (seronegative) 
641M08.3V133만성 연소성 다발관절염Chronic juvenile polyarthritis 
75642M30.0V134결절성 다발동맥염Polyarteritis nodosa 
643M30.1V134폐침범을 동반한 다발동맥염[처그-스트라우스]Polyarteritis with lung involvement [Churg- Strauss] 
644M30.1V134앨러지성 육아종성 혈관염Allergic granulomatous angiitis 
645M30.2V134연소성 다발동맥염Juvenile polyarteritis 
76646M31.0V135과민성 혈관염Hypersensitivity angiitis 
647M31.0V135굿파스쳐증후군Goodpasture’s syndrome 
648M31.1V135혈전성 미세혈관병증Thrombotic microangiopathy 
649M31.1V135혈전성 혈소판감소성 자반Thrombotic thrombocytopenic purpura 
650M31.2V135치사중간선육아종Lethal midline granuloma 
651M31.3V135베게너육아종증Wegener’s granulomatosis 
652M31.3V135괴사성 호흡기육아종증Necrotizing respiratory granulomatosis 
653M31.4V135대동맥궁증후군[다까야수]Aortic arch syndrome [Takayasu] 
654M31.7V238현미경적 다발혈관염Microscopic polyangiitis 
77655M32.1V136기관 또는 계통 침범을 동반한 전신홍반루푸스Systemic lupus erythematosus with organ or system involvement 
656M32.10V136심내막염 동반 전신홍반루푸스Systemic lupus erythematosus with endocarfitis(I39.8*) 
657M32.10V136리브만-삭스병Liebman-Sacks disease(I39.-*) 
658M32.10V136심장낭염 동반 전신홍반루푸스Systemic lupus erythematosus with pericarditis(I32.8*) 
659M32.12V136폐침범 동반 전신홍반루푸스Systemic lupus erythematosus with lung involvement(J99.1*) 
660M32.13V136사구체질환 동반 전신홍반루푸스Systemic lupus erythematosus with tubule-interstitial neophropathy(N16.4*) 
661M32.13V136세뇨관-간질신장병증 동반 전신홍반루푸스Systemic lupus erythematosus with other organ or system involvement 
662M32.15V136기타 기관 또는 계통 침범을 동반 전신홍반루푸스Systemic lupus erythematosus with other organ or system involvement 
663M32.15V136전신홍반루푸스에서의 뇌염Encephalitis in systemic lupus erythematosus(G05.8*) 
664M32.15V136전신홍반루푸스에서의 근병증Myopathy in systemic lupus erythematosus(G73.7*) 
665M32.15V136전신홍반루푸스에서의 대뇌동맥염Cerebral arteritis in systemic lupus erythematosus(I68.2*) 
666M32.19V136상세불명의 기관 또는 계통 침습을 동반한 전신홍반루푸스Systemic lupus erythematosus with unspecified organ or system 
667M32.8V136기타 형태의 전신홍반루푸스Other forms of systemic lupus erythematosus 
668M32.9V136상세불명의 전신홍반루푸스Systemic lupus erythematosus, unspecified 
78669M33V137피부다발근염Dermatopolymyositis 
670M33.0V137연소성 피부근염Juvenile dermatomyositis 
671M33.1V137기타 피부근염Other dermatomyositis 
672M33.2V137다발근염Polymyositis 
673M33.9V137상세불명의 피부다발근염Dermatopolymyositis, unspecified 
79674M34.0V138진행성 전신경화증Progressive systemic sclerosis 
675M34.1V138크레스트증후군CR(E)ST syndrome 
676M34.1V138석회증, 레이노현상, 식도기능장애, 경지증, 모세혈관확장의 조합Combination of calcinosis, Raynaud’s phenomenon,
(o)esophageal dysfunction, sclerodactyly,
telangiectasia
 
677M34.8V138기타 형태의 전신경화증Other forms of systemic sclerosis 
678M34.8V138폐침범을 동반한 전신경화증Systemic sclerosis with lung involvement(J99.1*) 
679M34.8V138근병증을 동반한 전신경화증Systemic sclerosis with myopathy(G73.7*) 
680M34.9V138상세불명의 전신경화증Systemic sclerosis, unspecified 
80681M35.0V139건조증후군[쉐그렌]Sicca syndrome[Sjögren] 
682M35.0V139각막결막염을 동반한 쉐그렌증후군Sjogren’s syndrome with keratoconjunctivitiis(H19.3*) 
683M35.0V139폐침범을 동반한 쉐그렌증후군Sjogren’s syndrome with lung involvement(J99.1*) 
684M35.0V139근병증을 동반한 쉐그렌증후군Sjogren’s syndrome with myopathy(G73.7*) 
685M35.0V139신세뇨관-간질성 장애을 동반한 쉐그렌증후군Sjogren’s syndrome with renal tubulo-interstitial disorder(N16.4*) 
686M35.1V139기타 중복증후군Other overlap syndromes 
687M35.1V139혼합결합조직병Mixed connective tissue disease 
688M35.2V139베체트병Behçet’s disease 
689M35.3V139류마티스성 다발근통Polymyalgia rheumatica 
690M35.4V139미만성(호산구성) 근막염Diffuse(eosinophilic) fasciitis 
691M35.5V139다초점 섬유경화증Multifocal fibrosclerosis 
692M35.6V139재발성 지방층염[웨버-크리스찬]Relapsing panniculitis[Weber-Christian] 
693M35.7V139과가동성 증후군Hypermobility syndrome 
694M35.7V139가족성 인대이완Familial ligamentous laxity 
81695M45V140강직척추염Ankylosing spondylitis 
696M45V140척추의 류마티스관절염Rheumatoid arthritis of spine 
82697M61.1V224진행성 골화섬유형성이상Fibrodysplasia ossificans progressiva 
83698M88V213뼈의 파젯병[변형성 골염]Paget’s disease of bone [osteitis deformans] 
699M88.0V213두개골의 파젯병Paget’s disease of skull 
700M88.8V213기타 뼈의 파젯병Paget’s disease of other bones 
701M88.9V213상세불명의 뼈의 파젯병Paget’s disease of bone, unspecified 
84702M89.0V177복합부위통증증후군 I형Complex regional pain syndrome type I 
703M89.0V177통증신경디스트로피Algoneurodystrophy 
704M89.0V177어깨-손증후군Shoulder-hand syndrome 
705M89.0V177수데크위축Sudeck’s atrophy 
706M89.0V177교감신경반사디스트로피Sympathetic reflex dystrophy 
85707M94.1V178재발성 다발연골염Relapsing polychondritis 
86708N18V001,003만성 신장병Chronic kidney disease투석중인 환자로
신장장애 2급을
받은 자에 한함
87709N25.1V141신장성 요붕증Nephrogenic diabetes insipidus 
88710P22.0V142신생아의 호흡곤란증후군Respiratory distress syndrome of newborn 
89711Q03.1V239댄디-워커증후군Dandy-Walker syndrome 
90712Q04.3V214무뇌이랑증Agyria of brain 
713Q04.6V240분열뇌증Schizencephaly 
91714Q05V179이분척추Spina bifida 
715Q05.0V179수두증을 동반한 이분경추Cervical spina bifida with hydrocephalus 
716Q05.1V179수두증을 동반한 이분흉추Thoracic spina bifida with hydrocephalus 
717Q05.1V179수두증을 동반한 이분척추Dorsal spina bifida with hydrocephalus 
718Q05.1V179수두증을 동반한 이분흉요추Thoracolumbar spina bifida with hydrocephalus 
719Q05.2V179수두증을 동반한 이분요추Lumbar spina bifida with hydrocephalus 
720Q05.2V179수두증을 동반한 이분요천추Lumbosacral spina bifida with hydrocephalus 
721Q05.3V179수두증을 동반한 이분천추Sacral spina bifida with hydrocephalus 
722Q05.4V179수두증을 동반한 상세불명의 이분척추Unspecified spina bifida with hydrocephalus 
723Q05.5V179수두증이 없는 이분경추Cervical spina bifida without hydrocephalus 
724Q05.6V179수두증이 없는 이분흉추Thoracic spina bifida without hydrocephalus 
725Q05.6V179이분척추 NOSDorsal spina bifida NOS 
726Q05.6V179이분흉요추 NOSThoracolumbar spina bifida NOS 
727Q05.7V179수두증이 없는 이분요추Lumbar spina bifida without hydrocephalus 
728Q05.7V179이분요천추 NOSLumbosacral spina bifida NOS 
729Q05.8V179수두증이 없는 이분천골Sacral spina bifida without hydrocephalus 
730Q05.9V179상세불명의 이분척추Spina bifida, unspecified 
92731Q06.2V180척수이개증Diastematomyelia 
93732Q07.0V143아놀드-키아리증후군Arnold-Chiari syndrome 
94733Q20.0V144총동맥간Common arterial trunk 
734Q20.0V144동맥간존속Persistent truncus arteriosus 
735Q20.1V144이중출구우심실Double outlet right ventricle 
736Q20.1V144타우시그-빙증후군Taussig-Bing syndrome 
737Q20.2V144이중출구좌심실Double outlet left ventricle 
738Q20.4V225단일심실Single ventricle 
95739Q21.8V226아이젠멘거결손Eisenmenger’s defect 
96740Q22.0V145폐동맥판폐쇄Pulmonary valve atresia 
97741Q22.6V146형성저하성 우심증후군Hypoplastic right heart syndrome 
98742Q23V147대동맥판 및 승모판의 선천기형Congenital malformations of aortic and mitral valves 
743Q23.0V147대동맥판의 선천협착Congenital stenosis of aortic valve 
744Q23.0V147선천성 대동맥판폐쇄Congenital aortic atresia 
745Q23.0V147선천성 대동맥협착Congenital aortic stenosis 
746Q23.1V147대동맥판의 선천성 기능부전Congenital insufficiency of aortic valve 
747Q23.1V147이첨대동맥판막Bicuspid aortic valve 
748Q23.1V147선천성 대동맥판폐쇄부전Congenital aortic insufficiency 
749Q23.2V147선천성 승모판협착Congenital mitral stenosis 
750Q23.2V147선천성 승모판폐쇄Congenital mitral atresia 
751Q23.3V147선천성 승모판폐쇄부전Congenital mitral insufficiency 
752Q23.4V147형성저하성 좌심증후군Hypoplastic left heart syndrome 
753Q23.4V147(승모판 협착 또는 폐쇄와 함께) 상행대동맥의 형성저하와 좌심실의 결손발육을 동반하는 대동맥구멍 및 판막의 폐쇄 또는 현저한 발육부전Atresia, or marked hypoplasia of aortic orifice or valve, with hypoplasia of ascending aorta and defective development of left ventricle (with mitral valve stenosis or atresia) 
754Q23.8V147대동맥판 및 승모판의 기타 선천기형Other congenital malformations of aortic and mitral valves 
755Q23.9V147대동맥판 및 승모판의 상세불명의 선천기형Congenital malformation of aortic and mitral valves, unspecified 
99756Q24.5V148관상동맥혈관의 기형Malformation of coronary vessels 
757Q24.5V148선천성 관상동맥류Congenital coronary(artery) aneurysm 
100758Q25.5V149폐동맥의 폐쇄Atresia of pulmonary artery 
101759Q26.0V150대정맥의 선천성 협착Congenital stenosis of vena cava 
760Q26.0V150(하)(상)대정맥의 선천성 협착Congenital stenosis of vena cava (inferior)(superior) 
761Q26.1V150좌상대정맥존속Persistent left superior vena cava 
762Q26.2V150전폐정맥결합이상Total anomalous pulmonary venous connection 
763Q26.3V150부분폐정맥결합이상Partial anomalous pulmonary venous connection 
764Q26.4V150상세불명의 폐정맥결합이상Anomalous pulmonary venous connection, unspecified 
765Q26.5V150문맥결합이상Anomalous portal venous connection 
766Q26.6V150문맥-간동맥루Portal vein-hepatic artery fistula 
102767Q38.3V241무설증Aglossia 
103768Q44.2V181담관의 폐쇄Atresia of bile ducts 
104769Q64.1V227방광외반Exstrophy of urinary bladder 
770Q64.1V227방광이소증Ectopia vesicae 
771Q64.1V227방광외번Extroversion of bladder 
105772Q75.1V151크루존병Crouzon’s disease 
106773Q75.4V182하악안면골이골증Mandibulofacial dysostosis 
774Q75.4V182프란체스쉐티 증후군Franceschetti syndrome 
775Q75.4V182트레처-콜린스 증후군Treacher Collins syndrome 
107776Q77V228관상골 및 척추의 성장결손을 동반한 골연골형성이상Osteochondrodysplasia with defects of growth of tubular bones and spine 
777Q77.0V228연골무발생증Achondrogenesis 
778Q77.0V228연골발생저하증Hypochondrogenesis 
779Q77.1V228치사성 단신Thanatophoric short stature 
780Q77.2V228짧은늑골증후군Short rib syndrome 
781Q77.2V228질식성 흉부형성이상[쥐느]Asphyxiating thoracic dysplasia[Jeune] 
782Q77.3V228점상 연골형성이상Chondrodysplasia punctata 
108783Q77.4V228연골무형성증Achondroplasia 
784Q77.4V228연골형성저하증Hypochondroplasia 
785Q77.4V228선천성 골경화증Osteosclerosis congenita 
109786Q77.5V228디스트로피성 형성이상Dystrophic dysplasia 
110787Q77.6V228연골외배엽형성이상Chondroectodermal dyplasia 
788Q77.6V228엘리스-반크레벨트증후군Ellis-van Creveld syndrome 
111789Q77.7V228척추골단형성이상Spondyloepiphyseal dysplasia 
112790Q77.8V228관상골 및 척추의 성장결손을 동반한 기타 골연골형성이상Other osteochondrodysplasia with defects of growth of tubular bones and spine 
791Q77.9V228관상골 및 척추의 성장결손을 동반한 상세불명의 골연골형성이상Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified 
113792Q78.0V183불완전골형성Osteogenesis imperfecta 
793Q78.0V183골취약증Fragilitas ossium 
794Q78.0V183골취약증Fragilitas ossium 
114795Q78.1V154다골성 섬유성 형성이상Polyostotic fibrous dysplasia 
796Q78.1V154얼브라이트(-맥쿤)(-스턴버그)증후군Albright(-McCune)(-Sternberg) syndrome 
115797Q78.2V229골화석증Osteopetrosis 
798Q78.2V229알베르스-쇤베르그증후군Albers-Schönberg syndrome 
799Q78.4V230내연골종증Enchondromatosis 
800Q78.4V230마푸치증후군Maffucci’s syndrome 
801Q78.4V230올리에르병Ollier’s disease 
116802Q78.5V215필레증후군Pyle’s syndrome 
117803Q78.6V242다발선천외골증Multiple congenital exostoses 
804Q78.6V242골간병적조직연결Diaphyseal aclasis 
118805Q79V155달리 분류되지 않은 근골격계통의 선천기형Congenital malformations of musculoskeletal system, NEC 
806Q79.0V155선천성 횡격막탈장Congenital diaphragmatic hernia 
807Q79.1V155횡격막의 기타 선천기형Other congenital malformations of diaphragm 
808Q79.1V155횡격막결여Absence of diaphragm 
809Q79.1V155횡격막의 선천기형 NOSCongenital malformation of diaphragm NOS 
810Q79.1V155횡격막 탈출Eventration of diaphragm 
811Q79.2V155배꼽내장탈장Exomphalos 
812Q79.2V155선천복벽탈장Omphalocele 
813Q79.3V155복벽파열증Gastroschisis 
814Q79.4V155말린자두배증후군Prune belly syndrome 
815Q79.5V155복벽의 기타 선천기형Other congenital malformations of abdominal wall 
816Q79.6V155엘러스-단로스증후군Ehlers-Danlos syndrome 
817Q79.8V155근골격계통의 기타 선천기형Other congenital malformations of musculoskeletal system 
818Q79.8V155근육의 결여Absence of muscle 
819Q79.8V155힘줄의 결여Absence of tendon 
820Q79.8V155부근Accessory muscle 
821Q79.8V155선천성 근위축Amyotrophia congenita 
822Q79.8V155선천성 협착띠Congenital constricting bands 
823Q79.8V155선천성 짧은힘줄Congenital shortening of tendon 
824Q79.8V155폴란드증후군Poland’s syndrome 
825Q79.9V155근골격계통의 상세불명의 선천기형Congenital malformation of musculoskeletal system, unspecified 
826Q79.9V155근골격계통의 선천이상 NOSCongenital anomaly of musculoskeletal system NOS 
827Q79.9V155근골격계통의 선천변형 NOSCongenital deformity of musculoskeletal system NOS 
119828Q81.1V184치사성 수포성 표피박리증Epidermolysis bullosa letalis 
829Q81.1V184헤를리츠증후군Herlitz’ syndrome 
830Q81.2V184디스트로피성 수포성 표피박리증Epidermolysis bullosa dystrophica 
120831Q85.0V156신경섬유종증(비악성)Neurofibromatosis (nonmalignant) 
832Q85.0V156폰렉클링하우젠병Von Recklinghausen’s disease 
121833Q85.1V204결절성 경화증Tuberous sclerosis 
834Q85.1V204부르느뷰병Bourneville’s disease 
835Q85.1V204에필로이아Epiloia 
122836Q85.8V216스터지-베버(-디미트리) 증후군Sturge-Weber(-Dimitri) syndrome 
837Q85.8V216포이츠-제거스 증후군Peutz-Jeghers syndrome 
838Q85.8V216폰 히펠-린다우 증후군Von Hippel-Lindau syndrome 
123839Q86.0V157(이상형태성) 태아알콜증후군Fetal alcohol syndrome (dysmorphic) 
124840Q87.0V185주로 얼굴형태에 영향을 주는 선천기형증후군Congenital malformation syndromes predominantly affecting facial appearance 
841Q87.0V185첨두다지유합증Acrocephalopolysyndactyly 
842Q87.0V185첨두유합지증Acrocephalosyndactyly(Apert) 
843Q87.0V185잠복안구증후군Cryptophthalmos syndrome 
844Q87.0V185단안증Cyclopia 
845Q87.0V185골덴하 증후군Goldenhar syndrome 
846Q87.0V185뫼비우스 증후군Moebius syndrome 
847Q87.0V185입-얼굴-손발 증후군Oro-facial-digital syndrome 
848Q87.0V185로빈 증후군Robin syndrome 
849Q87.0V185휘파람부는 얼굴Whistling face 
125850Q87.1V158주로 단신과 관련된 선천기형증후군Congenital malformation syndromes predominantly associated with short stature 
851Q87.1V158아르스코그 증후군Aarskog syndrome 
852Q87.1V158코케인 증후군Cockayne syndrome 
853Q87.1V158드 랑즈 증후군De Lange syndrome 
854Q87.1V158두보위츠 증후군Dubowitz syndrome 
855Q87.1V158누난 증후군Noonan syndrome 
856Q87.1V158프라더-윌리 증후군Prader-Willi syndrome 
857Q87.1V158로비노-실버만-스미스 증후군Robinow-Silverman-Smith syndrome 
858Q87.1V158러셀-실버 증후군Russel-Silver syndrome 
859Q87.1V158시클 증후군Seckel syndrome 
860Q87.1V158스미스-렘리-오피츠 증후군Smith-Lemli-Opitz syndrome 
861Q87.2V243루빈스타인-테이비 증후군Rubinstein-Taybi syndrome 
862Q87.3V244소토스 증후군Sotos syndrome 
126863Q87.4V186마르팡증후군Marfan’s syndrome 
127864Q90V159다운증후군Down’s syndrome 
865Q90.0V15921삼염색체증, 감수분열비분리Trisomy 21, meiotic nondisjunction 
866Q90.1V15921삼염색체증, 섞임증형(유사분열비분리)Trisomy 21, mosaicism (mitotic nondisjunction) 
867Q90.2V15921삼염색체증, 전위Trisomy 21, translocation 
868Q90.9V159상세불명의 다운증후군Down’s syndrome, unspecified 
869Q90.9V15921삼염색체증 NOSTrisomy 21 NOS 
128870Q91V160에드워즈증후군 및 파타우증후군Edwards’ syndrome and Patau’s syndrome 
871Q91.0V16018삼염색체증, 감수분열비분리Trisomy 18, meiotic nondisjunction 
872Q91.1V16018삼염색체증, 섞임증형(유사분열비분리)Trisomy 18, mosaicism (mitotic nondisjunction) 
873Q91.2V16018삼염색체증, 전위Trisomy 18, translocation 
874Q91.3V160상세불명의 에드워즈증후군Edwards’ syndrome, unspecified 
875Q91.4V16013삼염색체증, 감수분열비분리Trisomy 13, meiotic nondisjunction 
876Q91.5V16013삼염색체증, 섞임증형(유사분열비분리)Trisomy 13, mosaicism (mitotic nondisjunction) 
877Q91.6V16013삼염색체증, 전위Trisomy 13, translocation 
878Q91.7V160상세불명의 파타우증후군Patau’s syndrome, unspecified 
129879Q93.4V2055번 염색체 단완의 결손Deletion of short arm of chromosome 5 
880Q93.4V205고양이울음증후군Cri-du-chat syndrome 
130881Q93.5V217엔젤만증후군Angelman syndrome 
882Q93.5V217캐취22증후군CATCH22 syndrome 
131883Q96V021터너증후군Turner’s syndrome 
884Q96.0V021핵형45, XKaryotype 45, X 
885Q96.1V021핵형46, X동인자(Xq)Karyotype 46, X iso(Xq) 
886Q96.2V021동인자(Xq)를 제외한 이상 성염색체를 가진 핵형46, XKaryotype 46, X with abnormal sex chromosome, except iso(Xq) 
887Q96.3V021섞임증, 45, X/46, XX 또는 XYMosaicism, 45, X/46, XX or XY 
888Q96.4V021섞임증, 이상성염색체를 가진 45, X/기타 세포열Mosaicism, 45, X/other cell line(s) with abnormal sex chromosome 
889Q96.8V021터너증후군의 기타 변형Other variants of Turner’s syndrome 
890Q96.9V021상세불명의 터너증후군Turner’s syndrome, unspecified 
132891Q98.0V218클라인펠터증후군, 핵형 47, XXYKlinefelter’s syndrome karyotype 47, XXY 
892Q98.1V218클라인펠터증후군, 두 개 이상의 X염색체를 가진 남성Klinefelter’s syndrome, male with more than two X chromosomes 
893Q98.2V218클라인펠터증후군, 핵형 46, XX를 가진 남성Klinefelter’s syndrome, male with 46,XX karyotype 
894Q98.4V218상세불명의 클라인펠터증후군Klinefelter’s syndrome, unspecified 
133895Q99.2V245취약X염색체Fragile X chromosome 


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