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희귀난치성질환이란?

2019년 1월 적용, 국가관리대상 희귀질환 지정 목록 총 927개 발표('18.09.13)
첨부파일  2019년1월시행_927희귀질환지정목록_by_YEOULDOL™.pdf 등록일2018-11-06 조회수293
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희귀질환 지정 목록 927개


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 130상병(질병)코드 없음 : 국내 질병분류코드가 지정되지 않은 희귀질환
 100별표(*) 질환은 2019년 1월부터 희귀난치성 산정특례 지원되는 질환
  
연번질병분류
코드
국문질환명영문질환명
1*A31.9비정형마이코박테륨증, 가족형, X연관Atypical mycobacteriosis, familial, x-linked1
2A81.0크로이츠펠트-야콥병Creutzfeldt-Jakob disease
3A81.0아급성 해면모양뇌병증Subacute spongiform encephalopathy
4D55.0포도당-6-인산탈수소효소결핍에 의한 빈혈Anaemia due to glucose-6- phosphate dehydrogenase [G6PD] deficiency
5D55.0잠두중독Favism
6D55.0G6PD결핍빈혈G6PD deficiency anaemia
7D55.2해당효소의 장애에 의한 빈혈Anaemia due to disorders of glycolytic enzymes
8D55.2용혈성 비구상적혈구성 (유전성) Ⅱ형 빈혈Haemolytic nonspherocytic (hereditary), type Ⅱ anaemia
9D55.2헥소카이네이스결핍빈혈Hexokinase deficiency anaemia
10D55.2피루브산염카이네이스결핍빈혈Pyruvate kinase[PK] deficiency anaemia
11D55.2삼탄당인산염이성화효소결핍빈혈Triose-phosphate isomerase deficiency anaemia
12D56.0알파지중해빈혈Alpha thalassaemia
13D56.1베타지중해빈혈Beta thalassaemia
14D56.1쿠울리빈혈Cooley’s anaemia
15D56.1중증 베타지중해빈혈Severe beta thalassaemia
16D56.1중간형 지중해빈혈Intermedia thalassaemia
17D56.1중증 지중해빈혈Major thalassaemia
18D56.2델타-베타지중해빈혈Delta-beta thalassaemia
19D56.3지중해빈혈 소질Thalassaemia trait
20D56.4태아헤모글로빈의 유전적 존속Hereditary persistence of fetal haemoglobin [HPFH]
21D59.3비정형 용혈-요독증후군Atypical haemolytic-uraemic syndrome
22D59.5발작성 야간헤모글로빈뇨Paroxysmal nocturnal haemoglobinuria [Marchiafava-Micheli]
23D60.0만성 후천성 순수적혈구무형성Chronic acquired pure red cell aplasia
24D61.0체질성 무형성빈혈Constitutional aplastic anaemia
25D61.0선천성 무형성(순수)적혈구Aplasia, (pure) red cell (of) congenital
26D61.0영아 무형성(순수)적혈구Aplasia, (pure) red cell (of) infants
27D61.0원발성 무형성(순수)적혈구Aplasia, (pure) red cell (of) primary
28D61.0블랙판-다이아몬드증후군Blackfan-Diamond syndrome
29D61.0가족성 저형성빈혈Familial hypoplastic anaemia
30D61.0판코니빈혈Fanconi’s anaemia
31D61.0기형을 동반한 범혈구감소증Pancytopenia with malformations
32D61.3특발성 무형성빈혈Idiopathic aplastic anaemia
33D61.9저형성빈혈 NOSHypoplastic anaemia NOS
34D61.9골수형성저하Medullary hypoplasia
35D61.9범골수황폐Panmyelophthisis
36D64.4선천성 적혈구조혈이상빈혈Congenital dyserythropoietic anaemia
37D64.4이상조혈성 빈혈(선천성)Dyshaematopoietic anaemia(congenital)
38D66유전성 제8인자결핍Hereditary factor Ⅷ deficiency
39D66제8인자결핍(기능적 결함을 동반)Deficiency factor Ⅷ (with functional defect)
40D66혈우병 NOSHaemophilia NOS
41D66A형혈우병Haemophilia A
42D66고전적 혈우병Classical haemophilia
43D67유전성 제9인자결핍Hereditary factor Ⅸ deficiency
44D67크리스마스병Christmas disease
45D67제9인자결핍(기능적 결함을 동반)Factor Ⅸ deficiency (with functional defect)
46D67혈장트롬보플라스틴성분결핍Plasma thromboplastin component[PTC] deficiency
47D67B형혈우병Haemophilia B
48D68.0폰빌레브란트병Von Willebrand’s disease
49D68.0혈관혈우병(Angiohaemophilia)Angiohaemophilia
50D68.0혈관결손이 있는 제8인자결핍Factor Ⅷ deficiency with vascular defect
51D68.0혈관혈우병(Vascular haemophilia)Vascular haemophilia
52D68.1유전성 제11인자결핍Hereditary factor Ⅺ deficiency
53D68.1C형혈우병Haemophilia C
54D68.1혈장트롬보플라스틴전구물질결핍Plasma thromboplastin antecedent [PTA] deficiency
55D68.2기타 응고인자의 유전성 결핍Hereditary deficiency of other clotting factors
56D68.2선천성 무피브리노젠혈증Congenital afibrinogenaemia
57D68.2AC글로불린결핍AC globulin deficiency
58D68.2프로악셀레린결핍Proaccelerin deficiency
59D68.2제1인자[피브리노젠]의 결핍Ⅰ[Fibronogen] deficiency of factor
60D68.2제2인자[프로트롬빈]의 결핍Ⅱ[Prothrombin] deficiency of factor
61D68.2제5인자[불안정]의 결핍Ⅴ[Labile] deficiency of factor
62D68.2제7인자[안정]의 결핍Ⅶ[Stable] deficiency of factor
63D68.2제10인자[스튜어트-프라워]의 결핍Ⅹ[Stuart-Prower] deficiency of factor
64D68.2제12인자[하게만]의 결핍ⅩⅡ[Hageman] deficiency of factor
65D68.2제13인자[피브린안정화]의 결핍ⅩⅢ[Fibrin-stabilizing] deficiency of factor
66D68.2이상피브리노젠혈증(선천성)Dysfibrinogenaemia (congenital)
67D68.2저프로콘버틴혈증Hypoproconvertinaemia
68D68.2오우렌병Owren’s disease
69*D68.5항트롬빈결핍Antithrombin deficiency2
70*D68.5단백질C결핍Protein C deficiency3
71*D68.5단백질S결핍Protein S deficiency4
72D68.6항인지질증후군Antiphospholipid syndrome
73D69.1정성적 혈소판결손Qualitative platelet defects
74D69.1베르나르-술리에[거대혈소판]증후군Bernard-Soulier[giant platelet] syndrome
75D69.1글란즈만병Glanzmann’s disease
76D69.1그레이혈소판증후군Grey platelet syndrome
77D69.1혈소판무력증(출혈성)(유전성)Thromboasthenia (haemorrhagic)(hereditary)
78D69.1혈소판병증Thrombocytopathy
79D69.30에반스증후군Evans’ syndrome
80D70무과립구증Agranulocytosis
81D70무과립구성 안지나Agranulocytic angina
82D70선천성 무과립구증Congenital agranulocytosis
83D70영아 유전성 무과립구증Infantile genetic agranulocytosis
84D70코스트만병Kostmann’s disease
85D70호중구감소 NOSNeutropenia NOS
86D70선천성 호중구감소Congenital neutropenia
87D70순환성 호중구감소Cyclic neutropenia
88D70주기성 호중구감소Periodic neutropenia
89D70호중구감소성 비장비대Neutropenic splenomegaly
90D70베르너-슐츠병Werner-Schultz disease
단, 연번 80∼90번은 해당되나, D70.0(호중구감소성 발열) 및 D70.8(기타 무과립구증)은 제외
91D71다형핵호중구의 기능장애Functional disorders of polymorphonuclear neutrophils
92D71세포막수용체복합체[CR3]결손Cell membrane receptor complex [CR3] defect
93D71만성 (소아기) 육아종성 질환Chronic (childhood) granulomatous disease
94D71선천성 이상식작용증Congenital dysphagocytosis
95D71진행성 패혈성 육아종증Progressive septic granulomatosis
96D76.1혈구탐식성 림프조직구증Haemophagocytic lymphohistiocytosis
97D76.1가족성 혈구탐식세망증Familial haemophagocytic reticulosis
98D76.1단핵탐식세포의 조직구증Histiocytoses of mononuclear phagocytes
99D76.3세망조직구종(거대세포)Reticulohistiocytoma(giant-cell)
100D76.3심한 림프선병증을 동반한 동조직구증Sinus histiocytosis with massive lymph- adenopathy
101D80.0유전성 저감마글로불린혈증Hereditary hypogammaglobulinaemia
102D80.0보통염색체열성 무감마글로불린혈증(스위스형)Autosomal recessive agammaglobulinaemia (Swiss type)
103D80.0X-연관무감마글로불린혈증[브루톤](성장호르몬결핍을 동반)X-linked agammaglobulinaemia [Bruton] (with growth hormone deficiency)
104D80.0원발성 무감마글로불린혈증Agammaglobulinemia, primary
105D80.1비가족성 저감마글로불린혈증Nonfamilial hypogammaglobulinaemia
106D80.1면역글로불린을 지닌 B-림프구가 있는 무감마글로불린혈증Agammaglobulinaemia with immunoglobulin-bearing B-lymphocytes
107D80.1공통가변성 무감마글로불린혈증Common variable agammaglobulinaemia [CVAgamma]
108D80.1저감마글로불린혈증 NOSHypogammaglobulinaemia NOS
109D80.2면역글로불린A의 선택적 결핍Selective deficiency of immunoglobulin A[IgA]
110D80.3면역글로불린G 서브클래스의 선택적 결핍Selective deficiency of immunoglobulin G [IgG] subclasses
111D80.4면역글로불린M의 선택적 결핍Selective deficiency of immunoglobulin M[IgM]
112D80.5면역글로불린M의 증가를 동반한 면역결핍Immunodeficiency with increased immunoglobulin M[IgM]
113D80.6거의 정상의 면역글로불린 또는 고면역글로불린혈증을 동반한 항체결핍Antibody deficiency with near-normal immunoglobulins or with hyperimmunoglobulinaemia
114D80.8항체결손이 현저한 기타 면역결핍Other immunodeficiencies with predominantly antibody defects
115D80.8카파경쇄결핍Kappa light chain deficiency
116D81.0세망세포발생이상을 동반한 중증복합면역결핍Severe combined immunodeficiency [SCID] with reticular dysgenesis
117D81.1T- 및 B-세포수가 감소된 중증복합면역결핍Severe combined immunodeficiency [SCID] with low T-and B-cell numbers
118D81.2B-세포수가 정상이거나 감소된 중증복합면역결핍Severe combined immunodeficiency [SCID] with low or normal B-cell numbers
119D81.3아데노신탈아미노효소결핍Adenosine deaminase[ADA] deficiency
120D81.4네젤로프증후군Nezelof’s syndrome
121D81.5퓨린뉴클레오사이드인산화효소결핍Purine nucleoside phosphorylase[PNP] deficiency
122D81.6주조직적합성복합체I형결핍Major histocompatibility complex class I deficiency
123D81.6노출림프구증후군Bare lymphocyte syndrome
124D81.7주조직적합성복합체Ⅱ형결핍Major histocompatibility complex class Ⅱ deficiency
125D81.8바이오틴-의존카복실레이스결핍Biotin-dependent carboxylase deficiency
126D81.8오멘증후군Omenn syndrome
127D81.9중증복합면역결핍장애 NOSSevere combined immunodeficiency disorder [SCID]) NOS
128D82.0비스코트-얼드리치증후군Wiskott-Aldrich syndrome
129D82.0혈소판감소 및 습진을 동반한 면역결핍Immunodeficiency with thrombocy- topenia and eczema
130D82.1디죠지증후군Di George’s syndrome
131D82.1인두낭증후군Pharyngeal pouch syndrome
132D82.1흉선성 림프조직무형성Thymic alymphoplasia
133D82.1면역결핍을 동반한 흉선무형성 또는 형성저하Thymic aplasia or hypoplasia with immunodeficiency
134D82.2짧은사지체구를 동반한 면역결핍Immunodeficiency with short-limbed stature
135D82.3엡스타인-바르바이러스에 대한 유전성 결손반응에 따른 면역결핍Immunodeficiency following hereditary defective response to Epstein-Barr virus
136D82.3X-연관 림프증식성 질환X-linked lymphoproliferative disease
137D82.4고면역글로불린E증후군Hyperimmunoglobulin E [IgE] syndrome
138D83.0B-세포 수 및 기능의 현저한 이상에 의한 공통 가변성 면역결핍Common variable immunodeficiency with predominant abnormalities of B-cell numbers and function
139D83.1현저한 면역조절T-세포장애에 의한 공통 가변성 면역결핍Common variable immunodeficiency with predominant immunoregulatory T-cell disorders
140D83.2B- 또는 T-세포에 대한 자가 항체를 동반한 공통 가변성 면역결핍Common variable immunodeficiency with autoantibodies to B-or T-cells
141D84.0림프구기능항원-1결손Lymphocyte function antigen-1[LFA-1] defect
142D84.1보체계통의 결손Defects in the complement system
143D84.1C1에스터레이스억제인자결핍C1 esterase inhibitor[C1-INH] deficiency
144D86.0폐의 사르코이드증Sarcoidosis of lung
145D86.1림프절의 사르코이드증Sarcoidosis of lymph nodes
146D86.2림프절의 사르코이드증을 동반한 폐의 사르코이드증Sarcoidosis of lung with sarcoidosis of lymph nodes
147D86.3피부의 사르코이드증Sarcoidosis of skin
148D86.8기타 및 복합부위의 사르코이드증Sarcoidosis of other and combined sites
149D86.8사르코이드증에서의 홍채섬모체염(H22.1*)Iridocyclitis in sarcoidosis(H22.1*)
150D86.8사르코이드증에서의 다발성 뇌신경마비(G53.2*)Multiple cranial nerve palsies in sarcoidosis(G53.2*)
151D86.8사르코이드관절병증(M14.8*)Sarcoid arthropathy(M14.8*)
152D86.8사르코이드심근염(I41.8*)Sarcoid myocarditis(I41.8*)
153D86.8사르코이드근염(M63.3*)Sarcoid myositis(M63.3*)
154D86.8포도막귀밑샘열Uveoparotid fever[Heerfordt]
155E16.10선천성 고인슐린혈증Congenital hyperinsulinaemia
156E20.1거짓 부갑상선기능저하증Pseudohypoparathyroidism
157E22.0말단비대증 및 뇌하수체거인증Acromegaly and pituitary gigantism
158E22.0말단비대증과 관련된 관절병증 (M14.5*)Arthropathy associated with acromegaly(M14.5*)
159E22.0성장호르몬의 과잉생산Overproduction of growth hormone
160E23.0콜만증후군Kallmann’s syndrome
161E23.0쉬한증후군Sheehan’s syndrome
162E24.0뇌하수체-의존 쿠싱병Pituitary-dependent Cushing’s disease
163E24.0뇌하수체 부신피질자극호르몬의 과다생산Overproduction of pituitary ACTH
164E24.0뇌하수체-의존 부신피질기능항진증Pituitary-dependent hyperadrenocorticism
165E24.1넬슨증후군Nelson’s syndrome
166E24.3이소성 부신피질자극호르몬증후군Ectopic ACTH syndrome
167E25.0효소결핍과 관련된 선천성 부신생식기장애Congenital adrenogenital disorders associated with enzyme deficiency
168E25.0선천성 부신증식증Congenital adrenal hyperplasia
169E25.021-수산화효소결핍21-Hydroxylase deficiency
170E25.0염류소실 선천성 부신증식증Salt-losing congenital adrenal hyperplasia
171E25.9부신생식기증후군 NOSAdrenogenital syndrome NOS
172E26.8바터증후군Bartter’s syndrome
173E27.1원발성 부신피질부전Primary adrenocortical insufficiency
174E27.1가족성 부신코티코이드결핍Familial glucocorticoid deficiency
175E27.1애디슨병Addison’s disease
176E27.1자가면역성 부신염Autoimmune adrenalitis
177E27.2애디슨발증Addisonian crisis
178E27.2부신발증Adrenal crisis
179E27.2부신피질발증Adrenocortical crisis
180E27.4부신출혈Adrenal haemorrhage
181E27.4부신경색증Adrenal infarction
182E27.4부신피질부전 NOSAdrenocortical insufficiency NOS
183E27.4저알도스테론증Hypoaldosteronism
184E34.8송과선 기능이상Pineal gland dysfunction
185E34.8조로증Progeria
186E55.0활동성 구루병Rickets, active
187E55.0영아골연화증Infantile osteomalacia
188E55.0연소성 골연화증Juvenile osteomalacia
189E70.0고전적 페닐케톤뇨증Classical phenylketonuria
190E70.1기타 고페닐알라닌혈증Other hyperphenylalaninaemias
191E70.2타이로신대사장애Disorders of tyrosine metabolism
192E70.2알캅톤뇨증Alkaptonuria
193E70.2조직흑갈병Ochronosis
194E70.2타이로신혈증Tyrosinaemia
195E70.2타이로신증Tyrosinosis
196E70.3눈피부백색증Oculocutaneous albinism
197E70.3눈백색증Ocular albinism
198E70.3체디아크(-스타인브링크)-히가시증후군Chediack(-Steinbrinck)-Higashi syndrome
199E70.3교차증후군Cross syndrome
200E70.3헤르만스키-푸들라크증후군Hermansky-Pudlak syndrome
201E70.3바르덴브르그 증후군Waardenburg´s syndrome
202E70.8히스티딘대사장애Disorder of histidine metabolism
203E70.8트립토판대사장애Disorder of tryptophan metabolism
204E71.0단풍시럽뇨병Maple-syrup-urine disease
205E71.1고류신-이소류신혈증Hyperleucine-isoleucinaemia
206E71.1고발린혈증Hypervalinaemia
207E71.1메틸말론산혈증Methylmalonic acidaemia
208E71.1아이소발레린산혈증Isovaleric acidaemia
209E71.1프로피온산혈증Propionic acidaemia
210E71.3지방산대사장애Disorders of fatty-acid metabolism
211E71.3부신백질디스트로피[애디슨-쉴더]Adrenoleukodystrophy[Addison-Schilder]
212E71.3근육카르니틴팔미틸트란스퍼레이스결핍Muscle carnitine palmityltransferase deficiency
213E71.3장쇄수산화아실코에이탈수소효소결핍증(VLCAD)Very long chain acyl-CoA dehydrogenase(VLCAD) deficiency(VLCAD)
214E72.0아미노산운반장애Disorders of amino-acid transport
215E72.0시스틴축적병(N29.8*)Cystine storage disease(N29.8*)
216E72.0시스틴증Cystinosis
217E72.0시스틴뇨증Cystinuria
218E72.0판코니(-드토니)(-드브레)증후군Fanconi(-de Toni)(-Debré)syndrome
219E72.0하르트넙병Hartnup’s disease
220E72.0로베증후군Lowe’s syndrome
221E72.1유황함유아미노산대사장애Disorders of sulfur-bearing amino-acid metabolism
222E72.1시스타타이오닌뇨증Cystathioninuria
223E72.1호모시스틴뇨Homocystinuria
224E72.1메타이오닌혈증Methioninaemia
225E72.1아황산염산화효소결핍Sulfite oxidase deficiency
226E72.1고호모시스틴혈증Hyperhomocysteinemia
227E72.2요소회로대사장애Disorders of urea cycle metabolism
228E72.2아르지닌혈증Argininaemia
229E72.2아르지닌숙신산뇨Argininosuccinic aciduria
230E72.2시트룰린혈증Citrullinaemia
231E72.2고암모니아혈증Hyperammonaemia
232E72.3라이신 및 하이드록시라이신 대사장애Disorders of lysine and hydroxylysine metabolism
233E72.3글루타르산뇨Glutaric aciduria
234E72.3하이드록시라이신혈증Hydroxylysinaemia
235E72.3고라이신혈증Hyperlysinaemia
236E72.4오르니틴대사장애Disorders of ornithine metabolism
237E72.4오르니틴혈증(Ⅰ, Ⅱ형)Ornithinaemia (typesⅠ, Ⅱ)
238E72.4오르니틴트랜스카바미라제결핍Ornithine transcarbamylase deficiency
239E72.5글라이신대사장애Disorders of glycine metabolism
240E72.5고하이드록시프롤린혈증Hyperhydroxyprolinaemia
241E72.5고프롤린혈증(Ⅰ, Ⅱ형)Hyperprolinaemia (typesⅠ, Ⅱ)
242E72.5비케톤고글라이신혈증Non-ketotic hyperglycinaemia
243E72.5사르코신혈증Sarcosinaemia
244E72.8베타아미노산대사장애Disorders of β-amino-acid metabolism
245E72.8감마글루타밀회로의 장애Disorders of γ-glutamyl cycle
246E73.0선천성 젖당분해효소결핍Congenital lactase deficiency
247E74.0글리코젠축적병Glycogen storage disease
248E74.0글리코젠축적병 1b형 AGlycogen storage disease 1b type A
249E74.0글리코젠합성효소결핍Glycogen synthase deficiency
250E74.0심장글리코젠증Cardiac glycogenosis
251E74.0안데르센병Andersen’s disease
252E74.0코리병Cori’s disease
253E74.0포르브스병Forbes’ disease
254E74.0허스병Hers’ disease
255E74.0맥아들병McArdle’s disease
256E74.0폼페병Pompe’s disease
257E74.0타루이병Tarui’s disease
258E74.0폰기에르케병von Gierke’s disease
259E74.0간인산화효소결핍Liver phosphorylase deficiency
260E74.2갈락토스대사장애Disorders of galactose metabolism
261E74.2갈락토카이네이스결핍Galactokinase deficiency
262E74.2갈락토스혈증Galactosaemia
263E74.4피루브산염대사 및 포도당신합성 장애Disorders of pyruvate metabolism and gluco-neogenesis
264E74.4포스포에놀피루브산염카르복시카이네이스의 결핍Deficiency of phosphoenol-pyruvate carboxykinase
265E74.4카복실레이스피루브산염의 결핍Deficiency of carboxylase pyruvate
266E74.4탈수소효소피루브산염의 결핍Deficiency of dehydrogenase pyruvate
267E74.8옥살산뇨Oxaluria
268E75.0GM₂-강글리오시드증GM₂-gangliosidosis
269E75.0샌드호프병Sandhoff’s disease
270E75.0테이-삭스병Tay-Sachs’ disease
271E75.0GM₂-강글리오시드증 NOSGM₂gangliosidosis NOS
272E75.0성인형 GM₂-강글리오시드증Adult GM₂gangliosidosis
273E75.0연소형 GM₂-강글리오시드증Juvenile GM₂gangliosidosis
274E75.1강글리오시드증 NOSGangliosidosis NOS
275E75.1GM₁-강글리오시드증GM₁-gangliosidosis
276E75.1GM₃-강글리오시드증GM₃-gangliosidosis
277E75.1뮤코지질증 ⅣMucolipidosis Ⅳ
278E75.2패프리(-앤더슨)병Fabry’s(-Anderson) disease
279E75.2고쉐병Gaucher’s disease
280E75.2크라베병Krabbe’s disease
281E75.2니만-픽병Niemann-Pick’s disease
282E75.2화버증후군Farber’s syndrome
283E75.2이염성 백질디스트로피Metachromatic leukodystrophy
284E75.2설파테이스결핍Sulfatase deficiency
285E75.4신경세포세로이드라이포푸스신증Neuronal ceroid lipofuscinosis
286E75.4바텐병Batten’s disease
287E75.4얀스키-빌쇼스키병Jansky-Bielschowsky’s disease
288E75.4쿠프스병Kufs’ disease
289E75.4스필마이어-보그트병Spielmeyer-Vogt’s disease
290E75.5대뇌건의 콜레스테롤증[밴보게르트-쉐러-엡스타인]Cerebrotendinous cholesterosis [van Bogaert-Scherer-Epstein]
291E75.5월만병Wolman’s disease
292E76.0Ⅰ형 점액다당류증Mucopolysaccharidosis, type Ⅰ
293E76.0헐러증후군Hurler syndrome
294E76.0헐러-샤이에증후군Hurler-Scheie syndrome
295E76.0샤이에증후군Scheie syndrome
296E76.1Ⅱ형 점액다당류증Mucopolysaccharidosis, type Ⅱ
297E76.1헌터증후군Hunter’s syndrome
298E76.2베타-글루쿠론산분해효소결핍β-Glucuronidase deficiency
299E76.2Ⅲ, Ⅳ, Ⅵ, Ⅶ형 점액다당류증Mucopolysaccharidosis, types Ⅲ, Ⅳ, Ⅵ, Ⅶ
300E76.2마로토-라미 (경도)(중증) 증후군Maroteaux-Lamy (mild)(severe) syndrome
301E76.2모르키오 (-유사)(고전적) 증후군Morquio(-like)(classic) syndrome
302E76.2산필립포 (B형)(C형)(D형) 증후군Sanfilippo (types B)(type C)(type D) syndrome
303E77.0라이소솜효소의 번역후 수정의 결손Defects in post-translational modification of lysosomal enzymes
304E77.0뮤코지질증Ⅱ[Ⅰ-세포병]Mucolipidosis Ⅱ[Ⅰ-cell disease]
305E77.0뮤코지질증Ⅲ[거짓헐러다발디스트로피]Mucolipidosis Ⅲ [Pseudo-Hurler polydystrophy]
306E77.1당단백질분해의 결손Defects in glycoprotein degradation
307E77.1아스파르틸글루코사민뇨Aspartylglucosaminuria
308E77.1푸고스축적증Fucosidosis
309E77.1마노스축적증Mannosidosis
310E77.1시알산증[뮤코지질증Ⅰ]Sialidosis[mucolipidosisⅠ]
311E79.1레쉬-니한증후군Lesch-Nyhan syndrome
312E80.2유전성 코프로포르피린증Hereditary coproporphyria
313E80.2포르피린증 NOSPorphyria NOS
314E80.2급성 간헐성 (간성) 포르피린증Acute intermittent(hepatic) porphyria
315E83.0구리대사장애Disorders of copper metabolism
316E83.0멘케스(꼬인모발)( 강모)병)Menkes (kinky hair)(steely hair) disease
317E83.0윌슨병Wilson’s disease
318E83.1혈색소증Haemochromatosis
319*E83.2장병성 말단피부염Acrodermatitis enteropathica5
320E83.3인대사 및 인산분해효소 장애Disorders of phosphorus metabolism and phosphatases
321E83.3산성인산분해효소결핍Acid phosphatase deficiency
322E83.3가족성 저인산혈증Familial hypophosphataemia
323E83.3저인산효소증Hypophosphatasia
324E83.3비타민D저항골연화증Vitamin-D-resistant osteomalacia
325E83.3비타민D저항구루병Vitamin-D-resistant rickets
326E84.0폐증상을 동반한 낭성 섬유증Cystic fibrosis with pulmonary manifestations
327E84.1장증상을 동반한 낭성 섬유증Cystic fibrosis with intestinal manifestations
328E84.1원위장폐쇄증후군Distal intestinal obstruction syndrome
329E841낭성 섬유증에서의 태변장폐색 (P75*)Meconium ileus in cystic fibrosis(P75*)
330E85.0비신경병성 유전가족성 아밀로이드증Non-neuropathic heredofamilial amyloidosis
331E85.0가족성 지중해열Familial Mediterranean fever
332E85.0유전성 아밀로이드 신장병증Hereditary amyloid nephropathy
333E85.1신경병성 유전가족성 아밀로이드증Neuropathic heredofamilial amyloidosis
334E85.1아밀로이드다발신경병증(포르투갈)Amyloid polyneuropathy(Portuguese)
335E85.2상세불명의 유전가족성 아밀로이드증Heredofamilial amyloidosis, unspecified
336E85.4기관한정아밀로이드증Organ-limited amyloidosis
337E85.4국소적 아밀로이드증Localized amyloidosis
338*E88.0알파-1-항트립신결핍α-1-Antitrypsin deficiency6
339*E88.1선천성 전신지방디스트로피Congenital systemic lipodystrophy7
340F80.3뇌전증에 동반된 후천성 실어증(失語症)[란다우-클레프너]Acquired aphasia with epilepsy [Landau-Kleffner]
341F84.2레트증후군Rett’s syndrome
342G10헌팅톤병Huntington’s disease
343G10헌팅톤무도병Huntington’s chorea
344G11.0선천성 비진행성 운동실조Congenital nonprogressive ataxia
345G11.1조기발병 소뇌성 운동실조(발병은 보통 20세 이전)Early-onset cerebellar ataxia(onset usually before the age of 20)
346G11.1본태성 떨림을(를) 동반한 조기발병 소뇌성 운동실조Early-onset cerebellar ataxia with essential tremor
347G11.1마이오클로누스[헌트운동실조]을(를) 동반한 조기발병 소뇌성 운동실조Early-onset cerebellar ataxia with myoclonus[Hunt’s ataxia]
348G11.1보류된 건반사을(를) 동반한 조기발병 소뇌성 운동실조Early-onset cerebellar ataxia with retained tendon reflexes
349G11.1프리드라이히운동실조(보통염색체열성)Friedreich’s ataxia(autosomal recessive)
350G11.1X-연관 열성 척수소뇌성 운동실조X-linked recessive spinocerebellar ataxia
351G11.2만기발병 소뇌성 운동실조(발병은 보통 20세 이후)Late-onset cerebellar ataxia(Onset usually after the age of 20)
352G11.3DNA복구결손을 수반한 소뇌성 운동실조Cerebellar ataxia with defective DNA repair
353G11.3모세혈관확장성 운동실조[루이-바]Ataxia telangiectasia[Louis-bar]
354G11.4유전성 강직성 하반신마비Hereditary spastic paraplegia
355G11.8기타 유전성 운동실조Other hereditary ataxias
356G11.9상세불명의 유전성 운동실조Hereditary ataxia, unspecified
357G11.9유전성 소뇌의 운동실조 NOSHereditary cerebellar ataxia NOS
358G11.9유전성 소뇌의 변성Hereditary cerebellar degeneration
359G11.9유전성 소뇌의 병Hereditary cerebellar disease
360G11.9유전성 소뇌의 증후군Hereditary cerebellar syndrome
361G12.0영아척수성 근위축, I형[베르드니히-호프만]Infantile spinal muscular atrophy, type Ⅰ[Werdnig-Hoffman]
362G12.1기타 유전성 척수성 근위축Other inherited spinal muscular atrophy
363G12.1소아기의 진행성 연수마비[파지오-론데]Progressive bulbar palsy of childhood [Fazio-Londe]
364G12.1성인형 척수성 근위축Adult form spinal muscular atrophy
365G12.1소아형, Ⅱ형 척수성 근위축Childhood form, type Ⅱ spinal muscular atrophy
366G12.1원위 척수성 근위축Distal spinal muscular atrophy
367G12.1연소형, Ⅲ형[쿠겔베르그-벨란더] 척수성 근위축Juvenile form, typeⅢ [Kugelberg-Welander] spinal muscular atrophy
368G12.1어깨종아리형 척수성 근위축Scapuloperoneal form spinal muscular atrophy
369G12.2운동신경세포병Motor neuron disease
(단, 기타 및 상세불명의 운동신경세포병(G12.28)은 제외)
370G12.8기타 척수성 근위축 및 관련 증후군Other spinal muscular atrophies and related syndromes
371G12.9상세불명의 척수성 근위축Spinal muscular atrophy, unspecified
372G23.0할러포르덴-스파츠병Hallervorden-Spatz disease
373G23.0색소성 담창구변성Pigmentary pallidal degeneration
374G23.1진행성 핵상안근마비 [스틸-리차드슨-올스제위스키]Progressive supranuclear ophthalmoplegia [Steele-Richardson-Olszewski]
375G25.8강직인간증후군Stiff-man syndrome
376G31.81아급성 괴사성 뇌병증[리이]Subacute necrotizing encephalopathy[Leigh]
377G35다발경화증Multiple sclerosis
378G35다발경화증 NOSMultiple sclerosis (of) NOS
379G35뇌간(~의) 다발경화증Multiple sclerosis (of) brain stem
380G35척수(~의) 다발경화증Multiple sclerosis (of) cord
381G35파종성(~의) 다발경화증Multiple sclerosis (of) disseminated
382G35전신성(~의) 다발경화증Multiple sclerosis (of) generalized
383G36.0시신경척수염[데빅병]Neuromyelitis optica[Devic]
384G40.4레녹스-가스토증후군Lennox-Gastaut syndrome
385G40.4웨스트증후군West’s syndrome
386G41.0대발작 뇌전증지속상태Grand mal status epilepticus
387G41.0긴장-간대성 뇌전증지속상태Tonic-clonic status epilepticus
388G41.1소발작뇌전증지속상태Petit mal status epilepticus
389G41.1뇌전증 압상스지속상태Epileptic absence statu
390G41.2복합부분뇌전증지속상태Complex partial status epilepticus
391G41.8기타 뇌전증지속상태Other status epilepticus
392G41.9상세불명의 뇌전증지속상태Status epilepticus, unspecified
393G47.4발작수면 및 허탈발작Narcolepsy and cataplexy
394G51.2멜커슨증후군Melkersson’s syndrome
395G51.2멜케르손-로젠탈증후군Melkersson-Rosenthal syndrome
396G56.4복합부위통증증후군 Ⅱ형Complex regional pain syndrome typeⅡ
397G57.80다리의 복합부위통증증후군 II형Complex regional pain syndrome type II of lower limb
398G60.0유전성 운동 및 감각 신경병증Hereditary motor and sensory neuropathy
399G60.0샤르코-마리-투스질환Charcot-Marie-Tooth disease
400G60.0데제린-소타스병Déjerine-Sottas disease
401G60.0유전성 운동 및 감각 신경병증 I-IV형Hereditary motor and sensory neuropathy, types I-IV
402G60.0영아기의 비대성 신경병증Hypertrophic neuropathy of infancy
403G60.0비골근위축(축삭형, 비대형)Peroneal muscular atrophy(axonal type, hypertrophic type)
404G60.0루시-레비증후군Roussy-Lévy syndrome
405G61.0길랭-바레증후군Guillain-Barré syndrome
406G61.0밀러휘셔증후군Miller Fisher syndrome
407G61.8다초점 운동 신경병증(전도차단동반)Multifocal Motor Neuropathy
408G61.8만성 염증성 탈수초성 다발신경병증Chronic inflammatory demyelinating polyneuropathy
409G70.0중증근무력증Myasthenia gravis
410G70.2선천성 및 발달성 근무력증Congenital and developmental myasthenia
411G71.0근디스트로피Muscular dystrophy
412G71.0뒤쉔 또는 베커와 유사한 보통염색체열성, 소아형 근디스트로피Autosomal recessive, childhood type, resembling Duchenne or Becker muscular dystrophy
413G71.0양성[베커] 근디스트로피Benign [Becker] muscular dystrophy
414G71.0조기수축을 동반하는 양성 어깨종아리[에머리-드라이프스] 근디스트로피Benign scapuloperoneal with early contractures [Emery-Dreifuss] muscular dystrophy
415G71.0원위성 근디스트로피Distal muscular dystrophy
416G71.0얼굴어깨팔 근디스트로피Facioscapulohumeral muscular dystrophy
417G71.0지대 근디스트로피Limb-girdle muscular dystrophy
418G71.0눈 근디스트로피Ocular muscular dystrophy
419G71.0눈인두성 근디스트로피Oculopharyngeal muscular dystrophy
420G71.0어깨종아리 근디스트로피Scapuloperoneal muscular dystrophy
421G71.0중증[뒤쉔] 근디스트로피Severe[Duchenne] muscular dystrophy
422G71.1근긴장장애Myotonic disorders
423G71.1근긴장디스트로피[스타이너트]Dystrophia myotonica[Steinert]
424G71.1연골형성장애성 근긴장증Chondrodystrophic myotonia
425G71.1증상성 근긴장증Symptomatic myotonia
426G71.1선천성 근긴장증 NOSMyotonia congenita NOS
427G71.1우성[톰슨] 선천성 근긴장증Dominant[Thomsen] myotonia congenita
428G71.1열성[베커] 선천성 근긴장증Recessive[Becker] myotonia congenita
429G71.1신경근육긴장[아이작스]Neuromyotonia[Isaacs]
430G71.1선천성 이상근긴장증Paramyotonia congenita
431G71.1거짓근긴장증Pseudomyotonia
432G71.2선천성 근병증Congenital myopathies
433G71.2선천성 근디스트로피 NOSCongenital muscular dystrophy NOS
434G71.2근섬유의 특정 형태이상을 동반한 선천성 근디스트로피(G71.2)Congenital muscular dystrophy with specific morphological abnormalities of the muscle fibre(G71.2)
435G71.2중심핵 병Central core disease
436G71.2미세심 병Minicore disease
437G71.2다발심 병Multicore disease
438G71.2근섬유형 불균형Fibre-type disproportion
439G71.2근세관성 (중심핵성) 근병증Myotubular (centronuclear) myopathy
440G71.2네말린근병증Nemaline myopathy
441G71.3달리 분류되지 않은 미토콘드리아근병증Mitochondrial myopathy, NEC
442G71.3멜라스증후군Mitochodrial myophathy, encephalopathy, lactic acsidosis, and stroke-like episodes
443G71.9유전성 근병증 NOSHereditary myopathy NOS
444G72.3주기마비(가족성) 저칼륨혈성Hypokalaemic periodic paralysis (familial)
445G73.1람베르트-이튼증후군(C00-D48†)Lambert-Eaton syndrome(C00-D48†)
446G95.0척수공동증 및 연수공동증Syringomyelia and syringobulbia
447H35.01코츠Coats
448*H35.05일스병Eales´ disease8
449H35.51색소망막염Retinitis pigmentosa
450H35.58스타르가르트병Stargardt’s disease
451H35.59레베르선천성흑암시Leber Congenital Amaurosis
452H35.59상세불명의 유전성 망막디스트로피Unspecified hereditary retinal dystrophy
453H49.8컨스-세이어증후군Kearns-Sayre syndrome
454*H51.8동안실행증(失行症), 코간형Ocular motor apraxia, Cogan type9
455I27.0원발성 폐동맥고혈압Primary pulmonary hypertension
456I27.8아이젠멘거복합Eisenmenger's complex
457I27.8아이젠멘거증후군Eisenmenger's syndrome
458I42.0비가역적 확장성 심근병증Irreversible dilated cardiomyopathy
459I42.1폐색성 비대성 심근병증Obstructive hypertrophic cardiomyopathy
460I42.1비대성 대동맥하협착Hypertrophic subaortic stenosis
461I42.2비폐색성 비대성 심근병증Nonobstructive hypertrophic cardiomyopathy
462I42.3심내막심근(호산구성)병Endomyocardial(eosinophilic) disease
463I42.3심내막심근(열대성)섬유증Endomyocardial(tropical) fibrosis
464I42.3뢰플러심내막염Loffler’s endocarditis
465I42.4심내막탄력섬유증Endocardial fibroelastosis
466I42.4선천성 심근병증Congenital cardiomyopathy
467*I47.2카테콜라민 다형성 심실성 빈맥Catecholaminergic polymorphic ventricular tachycardia10
468I67.5모야모야병Moyamoya disease
469I73.1폐색혈전혈관염[버거병]Thromboangiitis obliterans[Buerger]
470I78.0랑뒤-오슬러-웨버병Rendu-Osler-Weber disease
471I82.0버드-키아리증후군Budd-Chiari syndrome
472J84.0폐포단백질증Alveolar proteinosis
473J84.18특발성 폐섬유증Idiopathic pulmonary fibrosis
474*K00.51불완전상아질형성Dentinogenesis imperfecta11
475K50.0소장의 크론병Crohn’s disease of small intestine
476K50.1대장의 크론병Crohn’s disease of large intestine
477K50.8소장 및 대장 모두의 크론병Crohn’s disease of both small and large intestine
478K74.3원발성 담즙성 경변증Primary biliary cirrhosis
479K75.4자가면역성 간염Autoimmune hepatitis
480K83.0원발성 담관염/경화성 담관염(두 상병 진단기준 모두 충족하는 경우)Primary cholangitis/Sclerosing cholangitis
481L10.0보통천포창Pemphigus vulgaris
482L10.2낙엽천포창Pemphigus foliaceus
483L12.0수포성 유사천포창Bullous pemphigoid
484L12.1흉터유사천포창Cicatricial pemphigoid
485L12.1양성 점막유사천포창Benign mucous membrane pemphigoid
486L12.3후천성 수포성 표피박리증Acquired epidermolysis bullosa
487M08.0연소성 류마티스관절염Juvenile rheumatoid arthritis
488M08.0류마티스인자가 있거나 없는 연소성 류마티스관절염Juvenile rheumatoid arthritis with or without rheumatoid factor
489M08.1연소성 강직척추염Juvenile ankylosing spondylitis
490M08.2전신적으로 발병된 연소성 관절염Juvenile arthritis with systemic onset
491M08.3(혈청검사음성인) 연소성 다발관절염Juvenile polyarthritis (seronegative)
492M08.3만성 연소성 다발관절염Chronic juvenile polyarthritis
493M30.0결절성 다발동맥염Polyarteritis nodosa
494M30.1폐침범을 동반한 다발동맥염[처그-스트라우스]Polyarteritis with lung involvement [Churg- Strauss]
495M30.2연소성 다발동맥염Juvenile polyarteritis
496M31.0굿파스쳐증후군Goodpasture’s syndrome
497M31.1혈전성 미세혈관병증Thrombotic microangiopathy
498M31.1혈전성 혈소판감소성 자반Thrombotic thrombocytopenic purpura
499M31.2치사중간선육아종Lethal midline granuloma
500M31.3베게너육아종증Wegener’s granulomatosis
501M31.3괴사성 호흡기육아종증Necrotizing respiratory granulomatosis
502M31.4대동맥궁증후군[다까야수]Aortic arch syndrome [Takayasu]
503M31.7현미경적 다발동맥염Microscopic polyarteritis
504M32.1기관 또는 계통 침범을 동반한 전신홍반루푸스Systemic lupus erythematosus with organ or system involvement
505M33.0연소성 피부근염Juvenile dermatomyositis
506M33.1기타 피부근염Other dermatomyositis
507M33.2다발근염Polymyositis
508M34.0진행성 전신경화증Progressive systemic sclerosis
509M34.1크레스트증후군CR(E)ST syndrome
510M34.1석회증, 레이노현상, 식도기능장애, 경지증(硬指症), 모세혈관확장의 조합Combination of calcinosis, Raynaud’s phenomenon, (o)esophageal dysfunction, sclerodactyly, telangiectasia
511M34.8폐침범을 동반한 전신경화증(J99.1*)Systemic sclerosis with lung involvement(J99.1*)
512M34.8근병증을 동반한 전신경화증(G73.7*)Systemic sclerosis with myopathy(G73.7*)
513M35.0건조증후군[쉐그렌]Sicca syndrome[Sjögren]
514M35.0각막결막염을(를) 동반한 쉐그렌증후군(H19.3*)Sjogren’s syndrome with keratoconjunctivitiis(H19.3*)
515M35.0폐침범을(를) 동반한 쉐그렌증후군(J99.1*)Sjogren’s syndrome with lung involvement(J99.1*)
516M35.0근병증을(를) 동반한 쉐그렌증후군(G73.7*)Sjogren’s syndrome with myopathy(G73.7*)
517M35.0신세뇨관-간질성 장애을(를) 동반한 쉐그렌증후군(N16.4*)Sjogren’s syndrome with renal tubulo-interstitial disorder(N16.4*)
518M35.1혼합결합조직병Mixed connective tissue disease
519M35.2베체트병Behçet’s disease
520M35.3류마티스성 다발근통Polymyalgia rheumatica
521M35.4미만성(호산구성) 근막염Diffuse(eosinophilic) fasciitis
522M35.5다초점 섬유경화증Multifocal fibrosclerosis
523M35.6재발성 지방층염[웨버-크리스찬]Relapsing panniculitis[Weber-Christian]
524M61.1진행성 골화섬유형성이상Fibrodysplasia ossificans progressiva
525M8220/0, (D12.6)가족샘종폴립증Familial adenomatous polyposis
526M88.0두개골의 파젯병Paget’s disease of skull
527M88.8기타 뼈의 파젯병Paget’s disease of other bones
528M88.9상세불명의 뼈의 파젯병Paget’s disease of bone, unspecified
529M89.0복합부위통증증후군 I형Complex regional pain syndrome type I
530M94.1재발성 다발연골염Relapsing polychondritis
531N04.0소사구체이상을 동반한 신증후군Nephrotic syndrome with minor glomerular abnormality
532N04.0최소변화병변을 동반한 신증후군Nephrotic syndrome with minimal change lesion
533N04.1초점성 및 분절성 사구체병변을 동반한 신증후군Nephrotic syndrome with focal and segmental glomerular lesions
534N04.1초점성 및 분절성 유리질증을 동반한 신증후군Nephrotic syndrome with focal and segmental hyalinosis
535N04.1초점성 및 분절성 경화증을 동반한 신증후군Nephrotic syndrome with focal and segmental sclerosis
536N04.1초점성 사구체신염을 동반한 신증후군Nephrotic syndrome with focal glomerulonephritis
537N04.2미만성 막성 사구체신염을 동반한 신증후군Nephrotic syndrome with diffuse membranous glomerulonephritis
538N04.3미만성 메산지음 증식성 사구체신염을 동반한 신증후군Nephrotic syndrome with diffuse mesangial proliferative glomerulonephritis
539N04.4미만성 모세혈관내 증식성 사구체신염을 동반한 신증후군Nephrotic syndrome with diffuse endocapillary proliferative glomerulonephritis
540N04.5미만성 메산지음 모세혈관성 사구체신염을 동반한 신증후군Nephrotic syndrome with diffuse mesangiocapillary glomerulonephritis
541N04.5막증식성 사구체신염, 1형, 3형 또는 NOS를 동반한 신증후군Nephrotic syndrome with membranoproliferative glomerulonephritis, types 1 and 3, or NOS
542N04.6고밀도침착병을 동반한 신증후군Nephrotic syndrome with dense deposit disease
543N04.6막증식성 사구체신염, 2형을 동반한 신증후군Nephrotic syndrome with membranoproliferative glomerulonephritis, type 2
544N04.7미만성 반월형 사구체신염을 동반한 신증후군Nephrotic syndrome with diffuse crescentic glomerulonephritis
545N04.7모세혈관외 사구체신염을 동반한 신증후군Nephrotic syndrome with extracapillary glomerulonephritis
546N25.1신장성 요붕증Nephrogenic diabetes insipidus
547*P35.0선천성 풍진증후군Congenital rubella syndrome12
548Q03.1댄디-워커증후군Dandy-Walker syndrome
549Q04.3무뇌이랑증Agyria of brain
550*Q04.3활택뇌증Lissencephaly13
551Q04.3큰뇌이랑증Pachygyria
552*Q04.3소뇌무발생Cerebellar agenesis14
553Q04.6분열뇌증Schizencephaly
554Q05.0수두증을 동반한 이분경추Cervical spina bifida with hydrocephalus
555Q05.1수두증을 동반한 이분흉추Thoracic spina bifida with hydrocephalus
556Q05.1수두증을 동반한 이분척추Dorsal spina bifida with hydrocephalus
557Q05.1수두증을 동반한 이분흉요추Thoracolumbar spina bifida with hydrocephalus
558Q05.2수두증을 동반한 이분요추Lumbar spina bifida with hydrocephalus
559Q05.2수두증을 동반한 이분요천추Lumbosacral spina bifida with hydrocephalus
560Q05.3수두증을 동반한 이분천추Sacral spina bifida with hydrocephalus
561Q05.4수두증을 동반한 상세불명의 이분척추Unspecified spina bifida with hydrocephalus
562Q05.5수두증이 없는 이분경추Cervical spina bifida without hydrocephalus
563Q05.6수두증이 없는 이분흉추Thoracic spina bifida without hydrocephalus
564Q05.6이분척추 NOSDorsal spina bifida NOS
565Q05.6이분흉요추 NOSThoracolumbar spina bifida NOS
566Q05.7수두증이 없는 이분요추Lumbar spina bifida without hydrocephalus
567Q05.7이분요천추 NOSLumbosacral spina bifida NOS
568Q05.8수두증이 없는 이분천골Sacral spina bifida without hydrocephalus
569Q05.9상세불명의 이분척추Spina bifida, unspecified
570Q06.2척수이개증Diastematomyelia
571Q07.0아놀드-키아리증후군Arnold-Chiari syndrome
572*Q11.2렌즈소안구증후군Lenz microphthalmia syndrome15
573*Q14.1X-연관 연소성 망막분리X-linked juvenile retinoschisis16
574*Q17.2소이증(小耳症)Microtia17
575Q20.0총동맥간Common arterial trunk
576Q20.0동맥간존속Persistent truncus arteriosus
577Q20.1이중출구우심실Double outlet right ventricle
578Q20.1타우시그-빙증후군Taussig-Bing syndrome
579Q20.2이중출구좌심실Double outlet left ventricle
580Q20.3심실대혈관연결불일치Discordant ventriculoarterial connection
581Q20.3대동맥의 우측전위Dextrotransposition of aorta
582Q20.3대혈관의 (완전)전위Transposition of great vessels (complete)
583Q20.4단일심실Single ventricle
584Q20.5방실연결불일치Discordant atrioventricular connection
585Q20.5수정혈관전위Corrected transposition
586Q20.5좌측전위Laevotransposition
587Q20.5심실내번Ventricular inversion
588Q21.2방실중격결손Atrioventricular septal defect
589Q21.2총방실관Common atrioventricular canal
590Q21.2심내막융기결손Endocardial cushion defect
591Q21.2제1공심방중격결손(Ⅰ형)Ostium primum atrial septal defect (typeⅠ)
592Q21.3팔로네징후Tetralogy of Fallot
593Q21.3폐동맥 협착 또는 폐쇄, 대동맥의 우측위치 및 우심실비대를 동반한 심실중격결손Ventricular septal defect with pulmonary stenosis or atresia, dextroposition of aorta and hypertrophy of right ventricle
594Q21.4대동맥폐동맥중격결손Aortopulmonary septal defect
595Q21.4대동맥중격결손Aortic septal defect
596Q21.4대동맥폐동맥창Aortopulmonary window
597Q21.8아이젠멘거결손Eisenmenger’s defect
598Q22.0폐동맥판폐쇄Pulmonary valve atresia
599Q22.4삼첨판폐쇄Tricuspid atresia
600Q22.5에브스타인이상Ebstein’s anomaly
601Q22.6형성저하성 우심증후군Hypoplastic right heart syndrome
602Q23.0대동맥판의 선천협착Congenital stenosis of aortic valve
603Q23.0선천성 대동맥판폐쇄Congenital aortic atresia
604Q23.0선천성 대동맥협착Congenital aortic stenosis
605Q23.1대동맥판의 선천성 기능부전Congenital insufficiency of aortic valve
606Q23.1이첨대동맥판막Bicuspid aortic valve
607Q23.1선천성 대동맥판폐쇄부전Congenital aortic insufficiency
608Q23.1선천성 대동맥판역류Congenital aortic regurgitation
609Q23.2선천성 승모판협착Congenital mitral stenosis
610Q23.2선천성 승모판폐쇄Congenital mitral atresia
611Q23.3선천성 승모판폐쇄부전Congenital mitral insufficiency
612Q23.4형성저하성 좌심증후군Hypoplastic left heart syndrome
613Q23.4(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)
614Q23.8대동맥판 및 승모판의 기타 선천기형Other congenital malformations of aortic and mitral valves
615Q23.9대동맥판 및 승모판의 상세불명의 선천기형Congenital malformation of aortic and mitral valves, unspecified
616Q24.4선천성 대동맥협착Congenital subaortic stenosis
617Q24.5관상동맥혈관의 기형Malformation of coronary vessels
618Q24.5선천성 관상동맥류Congenital coronary(artery) aneurysm
619Q24.6선천성 심장차단Congenital heart block
620Q25.1대동맥의 축착Coarctation of aorta
621Q25.1대동맥의 축착(관전, 관후)Coarctation of aorta (preductal, postductal)
622Q25.2대동맥의 폐쇄Atresia of aorta
623Q25.3대동맥의 협착Stenosis of aorta
624Q25.3판막상부 대동맥협착Supravalvular aortic stenosis
625Q25.5폐동맥의 폐쇄Atresia of pulmonary artery
626Q26.0대정맥의 선천성 협착Congenital stenosis of vena cava
627Q26.0(하)(상)대정맥의 선천성 협착Congenital stenosis of vena cava (inferior)(superior)
628Q26.1좌상대정맥존속Persistent left superior vena cava
629Q26.2전폐정맥결합이상Total anomalous pulmonary venous connection
630Q26.3부분폐정맥결합이상Partial anomalous pulmonary venous connection
631Q26.4상세불명의 폐정맥결합이상Anomalous pulmonary venous connection, unspecified
632Q26.5문맥결합이상Anomalous portal venous connection
633Q26.6문맥-간동맥루Portal vein-hepatic artery fistula
634*Q28.2와이번메이슨증후군Wyburn Mason syndrome18
635Q38.3무설증(無舌症)Aglossia
636Q44.2담관의 폐쇄Atresia of bile ducts
637Q44.7알라질증후군Alagille’s syndrome
638Q61.1다낭성 신장, 보통염색체열성Polycystic kidney, autosomal recessive
639Q61.1다낭성 신장, 영아형Polycystic kidney, infantile type
640*Q61.9메켈증후군Meckel syndrome19
641Q64.1방광외반Exstrophy of urinary bladder
642Q64.1방광이소증Ectopia vesicae
643Q64.1방광외번Extroversion of bladder
644*Q74.0쇄골두개골이골증Cleidocranial dysostosis20
645*Q74.3선천성 다발관절만곡증Arthrogryposis multiplex congenita21
646Q75.0두개골유합Craniosynostosis
647Q75.0뾰족머리증(Acrocephaly)Acrocephaly
648Q75.0두개골의 불완전유합Imperfect fusion of skull
649Q75.0뾰족머리증(Oxycephaly)Oxycephaly
650Q75.0삼각머리증Trigonocephaly
651Q75.1두개안면골이골증Craniofacial dysostosis
652Q75.1크루존병Crouzon’s disease
653Q75.4하악안면골이골증Mandibulofacial dysostosis
654Q75.4프란체스쉐티 증후군Franceschetti syndrome
655Q75.4트레처-콜린스 증후군Treacher Collins syndrome
656Q77.0연골무발생증Achondrogenesis
657Q77.0연골발생저하증Hypochondrogenesis
658Q77.1치사성 단신Thanatophoric short stature
659Q77.2짧은늑골증후군Short rib syndrome
660Q77.2질식성 흉부형성이상[쥐느]Asphyxiating thoracic dysplasia[Jeune]
661Q77.3점상 연골형성이상Chondrodysplasia punctata
662Q77.3어깨고관절 점상 연골형성이상(1형-3형)Rhizomelic chondrodysplasia punctata(type 1-3)
663Q77.3X-연관 우성 연골형성이상X-linked dominant chondrodysplasia
664Q77.4연골무형성증Achondroplasia
665Q77.4연골형성저하증Hypochondroplasia
666Q77.4선천성 골경화증Osteosclerosis congenita
667Q77.5디스트로피성 형성이상Dystrophic dysplasia
668Q77.6연골외배엽형성이상Chondroectodermal dyplasia
669Q77.6엘리스-반크레벨트증후군Ellis-van Creveld syndrome
670Q77.7척추골단형성이상Spondyloepiphyseal dysplasia
671Q77.7만발성 척추골단형성이상Spondyloepiphyseal dysplasia tarda
672Q77.8관상골 및 척추의 성장결손을 동반한 기타 골연골형성이상Other osteochondrodysplasia with defects of growth of tubular bones and spine
673Q77.8말단왜소 형성이상Acromicric dysplasia
674Q77.9관상골 및 척추의 성장결손을 동반한 상세불명의 골연골형성이상Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
675Q78.0불완전골형성Osteogenesis imperfecta
676Q78.0골취약증(Fragilitas ossium)Fragilitas ossium
677Q78.0골취약증(Osteopsathyrosis)Osteopsathyrosis
678Q78.1다골성 섬유성 형성이상Polyostotic fibrous dysplasia
679Q78.1얼브라이트(-맥쿤)(-스턴버그)증후군Albright(-McCune)(-Sternberg) syndrome
680Q78.2골화석증Osteopetrosis
681Q78.2알베르스-쇤베르그증후군Albers-Schönberg syndrome
682Q78.3카무라티-엥겔만증후군Camurati-Engelmann syndrome
683Q78.4내연골종증Enchondromatosis
684Q78.4마푸치증후군Maffucci’s syndrome
685Q78.4올리에르병Ollier’s disease
686*Q78.5골간단연골형성이상, 슈미드형Metaphyseal chondrodysplasia, Schmid type22
687Q78.5필레증후군Pyle’s syndrome
688Q78.6다발선천외골증Multiple congenital exostoses
689Q78.6유전성 다발외골증Hereditary multiple exostoses
690Q78.6골간병적조직연결Diaphyseal aclasis
691*Q78.9가성 연골무형성 형성이상Pseudoachondroplastic dysplasia23
692Q79.0선천성 횡격막탈장Congenital diaphragmatic hernia
693Q79.1횡격막의 기타 선천기형Other congenital malformations of diaphragm
694Q79.1횡격막결여Absence of diaphragm
695Q79.1횡격막의 선천기형 NOSCongenital malformation of diaphragm NOS
696Q79.1횡격막 탈출Eventration of diaphragm
697Q79.2배꼽내장탈장Exomphalos
698Q79.2선천복벽탈장Omphalocele
699Q79.3복벽파열증Gastroschisis
700Q79.4말린자두배증후군Prune belly syndrome
701Q79.5복벽의 기타 선천기형Other congenital malformations of abdominal wall
702Q79.6엘러스-단로스증후군Ehlers-Danlos syndrome
703Q79.8근골격계통의 기타 선천기형Other congenital malformations of musculoskeletal system
704Q79.8근육의 결여Absence of muscle
705Q79.8힘줄의 결여Absence of tendon
706Q79.8부근Accessory muscle
707Q79.8선천성 근위축Amyotrophia congenita
708Q79.8선천성 협착띠Congenital constricting bands
709Q79.8선천성 짧은힘줄Congenital shortening of tendon
710Q79.8폴란드증후군Poland’s syndrome
711Q79.9근골격계통의 상세불명의 선천기형Congenital malformation of musculoskeletal system, unspecified
712Q79.9근골격계통의 선천이상 NOSCongenital anomaly of musculoskeletal system NOS
713Q79.9근골격계통의 선천변형 NOSCongenital deformity of musculoskeletal system NOS
714*Q80.2층판비늘증Lamellar ichthyosis24
715Q80.3선천성 수포성 비늘모양홍색피부증Congenital bullous ichthyosiform erythroderma
716Q81.0단순 수포성 표피박리증Epidermolysis bullosa simplex
717Q81.1치사성 수포성 표피박리증Epidermolysis bullosa letalis
718Q81.1헤를리츠증후군Herlitz’ syndrome
719Q81.2디스트로피성 수포성 표피박리증Epidermolysis bullosa dystrophica
720Q82.3색소실조증Incontinentia Pigmenti
721*Q82.4(무한성) 외배엽형성이상Ectodermal dysplasia (anhidrotic)25
722Q85.0신경섬유종증(비악성)Neurofibromatosis (nonmalignant)
723Q85.0신경섬유종증(비악성) 1형, 2형Neurofibromatosis(nonmalignant) type 1, type 2
724Q85.0폰렉클링하우젠병Von Recklinghausen’s disease
725Q85.1결절성 경화증Tuberous sclerosis
726Q85.1부르느뷰병Bourneville’s disease
727Q85.1에필로이아Epiloia
728Q85.8포이츠-제거스 증후군Peutz-Jeghers syndrome
729Q85.8스터지-베버(-디미트리) 증후군Sturge-Weber(-Dimitri) syndrome
730Q85.8폰 히펠-린다우 증후군Von Hippel-Lindau syndrome
731Q86.0(이상형태성) 태아알콜증후군Fetal alcohol syndrome (dysmorphic)
732Q87.0주로 얼굴형태에 영향을 주는 선천기형증후군Congenital malformation syndromes predominantly affecting facial appearance
733Q87.0첨두다지유합증Acrocephalopolysyndactyly
734Q87.0첨두유합지증Acrocephalosyndactyly(Apert)
735Q87.0잠복안구증후군Cryptophthalmos syndrome
736Q87.0단안증Cyclopia
737Q87.0골덴하 증후군Goldenhar syndrome
738Q87.0고린-샤우드리-모스 증후군Gorlin-Chaudhry-Moss syndrome
739Q87.0뫼비우스 증후군Moebius syndrome
740Q87.0입-얼굴-손발 증후군Oro-facial-digital syndrome
741Q87.0로빈 증후군Robin syndrome
742Q87.0휘파람부는 얼굴Whistling face
743Q87.0카펜터 증후군Carpenter´s syndrome
744Q87.1주로 단신과 관련된 선천기형증후군Congenital malformation syndromes predominantly associated with short stature
745Q87.1아르스코그 증후군Aarskog syndrome
746Q87.1코케인 증후군Cockayne syndrome
747Q87.1드 랑즈 증후군De Lange syndrome
748Q87.1두보위츠 증후군Dubowitz syndrome
749Q87.1누난 증후군Noonan syndrome
750Q87.1프라더-윌리 증후군Prader-Willi syndrome
751Q87.1로비노-실버만-스미스 증후군Robinow-Silverman-Smith syndrome
752Q87.1러셀-실버 증후군Russel-Silver syndrome
753Q87.1시클 증후군Seckel syndrome
754Q87.1스미스-렘리-오피츠 증후군Smith-Lemli-Opitz syndrome
755Q87.1쉐그렌-라손 증후군Sjogren-Larsson syndrome
756Q87.2홀트-오람 증후군Holt-Oram syndrome
757Q87.2클리펠-트레노우네이-베버 증후군Klippel-Trénaunay-Weber syndrome
758Q87.2손발톱무릎뼈 증후군Nail patella syndrome
759Q87.2루빈스타인-테이비 증후군Rubinstein-Taybi syndrome
760Q87.2바테르 증후군VATER syndrome
761*Q87.3베크위트-비데만 증후군Beckwith-Wiedemann syndrome26
762Q87.3소토스 증후군Sotos syndrome
763Q87.3위버 증후군Weaver syndrome
764Q87.4마르팡증후군Marfan’s syndrome
765Q87.8알포트 증후군Alport syndrome
766Q87.8로렌스-문(-바르데)-비들 증후군Laurence-Moon(-Bardet)-Biedl syndrome
767Q87.8젤웨거 증후군Zellweger syndrome
768Q87.8촤지 증후군CHARGE syndrome
769Q90.021삼염색체증, 감수분열비분리Trisomy 21, meiotic nondisjunction
770Q90.121삼염색체증, 섞임증형(유사분열비분리)Trisomy 21, mosaicism (mitotic nondisjunction)
771Q90.221삼염색체증, 전위Trisomy 21, translocation
772Q90.921삼염색체증 NOSTrisomy 21 NOS
773Q91.018삼염색체증, 감수분열비분리Trisomy 18, meiotic nondisjunction
774Q91.118삼염색체증, 섞임증형(유사분열비분리)Trisomy 18, mosaicism (mitotic nondisjunction)
775Q91.218삼염색체증, 전위Trisomy 18, translocation
776Q91.413삼염색체증, 감수분열비분리Trisomy 13, meiotic nondisjunction
777Q91.513삼염색체증, 섞임증형(유사분열비분리)Trisomy 13, mosaicism (mitotic nondisjunction)
778Q91.613삼염색체증, 전위Trisomy 13, translocation
779Q91.713삼염색체증후군Trisomy 13 syndrome
780*Q92.210단완삼염색체증Trisomy 10p27
781Q93.3월프-허쉬호른증후군Wolff-Hirschhorn syndrome
782Q93.45번 염색체 단완의 결손Deletion of short arm of chromosome 5
783Q93.4고양이울음증후군Cri-du-chat syndrome
784Q93.5엔젤만증후군Angelman syndrome
785Q93.5캐취22증후군CATCH22 syndrome
786*Q93.518장완단일염색체증18q monosomy28
787Q93.5스미스마제니스 증후군Smith-Magenis syndrome
788Q93.5윌리엄스 증후군Williams syndrome
789Q96.0핵형45, XKaryotype 45, X
790Q96.1핵형46, X동인자(Xq)Karyotype 46, X iso(Xq)
791Q96.2동인자(Xq)를 제외한 이상 성염색체를 가진 핵형46, XKaryotype 46, X with abnormal sex chromosome, except iso(Xq)
792Q96.3섞임증, 45, X/46, XX 또는 XYMosaicism, 45, X/46, XX or XY
793Q96.4섞임증, 이상성염색체를 가진 45, X/기타 세포열Mosaicism, 45, X/other cell line(s) with abnormal sex chromosome
794Q98.0클라인펠터증후군, 핵형 47, XXYKlinefelter’s syndrome karyotype 47, XXY
795Q98.1클라인펠터증후군, 두 개 이상의 X염색체를 가진 남성Klinefelter’s syndrome, male with more than two X chromosomes
796Q98.2클라인펠터증후군, 핵형 46, XX를 가진 남성Klinefelter’s syndrome, male with 46,XX karyotype
797Q99.2취약X증후군Fragile X syndrome
798코드없음알스트롬증후군 Alstrom syndrome1
799코드없음ARC 증후군Arthrogryposis, renal tubular dysfunction, and cholestasis (ARC syndrome)2
800코드없음Cowden 증후군Cowden syndrome3
801코드없음Dent 질환Dent disease4
802코드없음GLUT1 결핍증Glucose transporter type1 (GLUT1) deficiency5
803코드없음KID 증후군KID syndrome (Keratitis-ichthyosis-deafness)6
804코드없음가부키 증후군Kabuki syndrome7
805코드없음고함-스타우트 병Gorham-Stout disease (GSD)8
806코드없음굴지 형성이상Campomelic dysplasia9
807코드없음다발성 골단 형성이상Multiple epiphyseal dysplasia (MED)10
808코드없음데니스-드래쉬 증후군Denys-Drash syndrome11
809코드없음두개골간단형성부전증Craniometaphyseal dysplasia12
810코드없음라스무센 뇌염Rasmussen's encephalitis13
811코드없음랑거 기드온 증후군Langer-Giedion syndrome14
812코드없음밀러-디커 증후군Miller-Dieker syndrome15
813코드없음선천성 무거핵구성 혈소판감소증Congenital amegakaryocytic thrombocytopenia16
814코드없음알렉산더 병Alexander disease17
815코드없음앤틀리-빅슬러 증후군Antley-Bixler syndrome18
816코드없음어린선(선천성 비늘증)Congenital Ichthyosis19
817코드없음에드하임-체스터 병Erdheim-Chester disease20
818코드없음장림프관확장증Intestinal lymphangiectasia21
819코드없음주버트 증후군Joubert syndrome22
820코드없음지텔만 증후군Gitelman syndrome23
821코드없음카나반 병Canavan disease24
822코드없음카다실Cadasil25
823코드없음큐라리노 증후군Currarino syndrome26
824코드없음크론카이드-카나다 증후군Cronkhite-Canada syndrome27
825코드없음터프팅장증Tufting enteropathy (Intestinal epithelial dyspalsia)28
826코드없음패리-롬버그 증후군Parry-Romberg syndrome (Progressive hemifacial atrophy)29
827코드없음프레이저 증후군Fraser syndrome30
828코드없음헤이-웰스 증후군Hay-Wells syndrome31
829코드없음알란-헌든-더들리 증후군Allan-Herndon-Dudley syndrome32
830코드없음팰리스터-킬리언 증후군Pallister-Killian syndrome33
831코드없음코헨 증후군Cohen syndrome34
832코드없음진행성 가족성 간내 담즙정체증Progressive familial intrahepatic cholestasis35
833코드없음슈바크만-다이아몬드 증후군Schwachman-Diamond syndrome36
834코드없음Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)37
835코드없음동형접합 가족성 고콜레스테롤혈증Familial hypercholesterolemia homozygote38
836코드없음철불응성 철결핍성 빈혈Iron-refractory iron deficiency anemia39
837코드없음하다드 증후군Haddad syndrome40
838코드없음피어슨 증후군Pearson syndrome41
839코드없음3MC 증후군3MC syndrome (Malpuech-Michels-Mingarelli-Carnevale) 42
840코드없음워커-워버그 증후군Walker-Warburg syndrome43
841코드없음코핀-시리스 증후군Coffin Siris syndrome44
842코드없음소아성 교대성 편마비Alternating hemiplegia of childhood45
843코드없음쉰젤 기드온 증후군Schinzel Giedion syndrome46
844코드없음모왓-윌슨 증후군Mowat-Wilson syndrome47
845코드없음선천성 중추성 무호흡증Congenital central hypoventilation syndrome48
846코드없음1장완36 미세결실 증후군1p36 microdeletion syndrome49
847코드없음아동기 저수초형성 운동실조Childhood ataxia with central nervous system hypomyelination50
848코드없음근긴장이상을 동반한 고망간혈증Hypermanganesemia with dystonia51
849코드없음2장완11 미세중복 증후군2q11 microduplication syndrome52
850코드없음10장완 말단 삼염색체 증후군Distal 10q trisomy syndrome53
851코드없음15장완11.2 미세결실 증후군15q11.2 microdeletion syndrome54
852코드없음골드버그 쉬프린첸 증후군Goldberg Shprintzen syndrome55
853코드없음아이카디-구티에레스 증후군Aicardi-Goutieres syndrome56
854코드없음카라실 증후군CARASIL syndrome (Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy)57
855코드없음선천성 단장 증후군Congenital short bowel syndrome58
856*코드없음COL4A1 관련 증후군COL4A1-related disorder5929
857*코드없음DYRK1A 증후군DYRK1A syndrome or DYRK1A-related intellectual disability syndrome6030
858*코드없음KBG 증후군KBG syndrome 6131
859*코드없음Kleefstra 증후군Kleefstra syndrome6232
860*코드없음PelizaeusMerzbacher 병Pelizaeus Merzbacher disease6333
861*코드없음SOPH 증후군Short stature with optic atrophy and Pelger-Huët anomaly (SOPH) syndrome6434
862*코드없음가족성 칸디다증 2Candidiasis, familial, 2, autosomal recessive (CANDF2)6535
863*코드없음골린 증후군Gorlin syndrome6636
864*코드없음골츠 증후군Goltzs syndrome6737
865*코드없음랍슨 멘덴홀 증후군, 레프리코니즘Rabson-Mendellhal syndrome, leprechaunism6838
866*코드없음레버 유전시신경병증Leber`s hereditary optic neuropathy6939
867*코드없음로이에-디에츠 증후군Loeys-Dietz syndrome7040
868*코드없음로하드 증후군ROHHAD syndrorme7141
869*코드없음메이어-골린 증후군Meier-Gorlin syndrome7242
870*코드없음무홍채 소뇌성운동실조 정신박약증Aniridia cerebellar ataxia mental deficiency7343
871*코드없음버트-호그-두베 증후군Birt-Hogg-Dubé syndrome7444
872*코드없음볼프람 증후군Wolfram syndrome7545
873*코드없음봉입체 근염Inclusion body myositis7646
874*코드없음아이펙스 증후군IPEx syndrome7747
875*코드없음젤레오피직 골이형성증Geleophysic dysplasia7848
876*코드없음코핀-로우리 증후군Coffin-Lowry syndrome7949
877*코드없음크라이요피린 연관 주기 발열증후군Cryopyrin associated periodic fever syndrome (CAPS)8050
878*코드없음특발성 폐 혈색소증Idiopathic pulmonary hemosiderosis8151
879*코드없음폐림프관종증 Diffuse pulmonary lymphangiomatosis8252
880*코드없음포토키 룹스키 증후군Potocki-Lupski syndrome8353
881*코드없음플로우팅 하버 증후군Floating-Harbor syndrome8454
882*코드없음피트 홉킨스 증후군Pitt-Hopkins syndrome8555
883*코드없음하쥬-체니 증후군Hadju-Cheney syndrome8656
884*코드없음Vici 증후군Vici syndrome8757
885*코드없음가족성(유전성) 췌장염Hereditary pancreatitis8858
886*코드없음선천 간섬유증congenital hepatic fibrosis8959
887*코드없음선천 염소 설사 (만성염소설사)Congenital chloride diarrhea (Chronic chloride diarrhea)9060
888*코드없음선천성 지카 증후군Congenital Zika syndrome9161
889*코드없음돌발운동유발 이상운동Paroxysmal Kinesigenic Dyskinesia (PKD)9262
890*코드없음발작성 운동실조증 2형Episodic ataxia type 29363
891*코드없음안와 림프관종Orbital lymphangioma9464
892*코드없음만성 진행성 외안근마비Chronic progressive external ophthalmoplegia9565
893*코드없음11단완13 결실 (WAGR 증후군)11p13 deletion (WAGR syndrome)9666
894*코드없음11장완 결실 증후군 (야콥센 증후군)11q deletion syndrome (Jacobsen syndrome)9767
895*코드없음8장완13 미세결실증후군 (Mesomelia-synostoses 증후군) 8q13 microdeletion syndrome (Mesomelia-synostoses syndrome)9868
896*코드없음8장완24.1 결실 (랑거-기드온 증후군)Deletion 8q24.1 Langer–Giedion syndrome (LGS); Trichorhinophalangeal syndrome type II (TRPS2)9969
897*코드없음엠마누엘 증후군Emanuel syndrome10070
898*코드없음1장완21.1 미세결실 증후군1q21.1 microdeletion syndrome10171
899*코드없음2장완24 미세결실 증후군2q24 microdeletion syndrome10272
900*코드없음2장완32-33 미세결실 증후군2q32q33 microdeletion syndrome10373
901*코드없음2장완33.1 미세결실 증후군2q33.1 microdeletion syndrome 10474
902*코드없음3번 염색체 단완 결손3p deletion10575
903*코드없음3번 염색체 장완 결손3q deletion10676
904*코드없음3장완29 미세결실 증후군3q29 microdeletion syndrome10777
905*코드없음4번 염색체 단완부분결손 Partial deletion of the short arm of chromosome 410878
906*코드없음4장완21 미세결실4q21 microdeletion10979
907*코드없음4장완34 미세결실4q34 microdeletion11080
908*코드없음7장완11.23 미세중복 증후군7q11.23 microduplication syndrome11181
909*코드없음재조합 8번 염색체 증후군Recombinant 8 syndrome11282
910*코드없음8단완단일염색체증monosomy 8p11383
911*코드없음8단완11.2 미세결실증후군 8p11.2 deletion syndrome 11484
912*코드없음8장완21.11 미세결실 증후군8q21.11 microdeletion syndrome11585
913*코드없음8장완22.1 미세결실 증후군8q22.1 microdeletion syndrome11686
914*코드없음9번 염색체 단완 결손9p deletion11787
915*코드없음9단완사염색체증tetrasomy 9p11888
916*코드없음10장완 말단부 단일염색체증Distal monosomy 10q11989
917*코드없음10장완22-23 미세결실 증후군10q22.3q23 microdeletion syndrome12090
918*코드없음11장완 말단부 삼염색체증Distal trisomy 11q12191
919*코드없음14장완 말단부 단일염색체증Distal monosomy 14q12292
920*코드없음15장완사염색체증15q tetrasomy (isodicentric 15 chromosome syndrome)12393
921*코드없음16번 염색체 단완 결손16p deletion (ATR-16 syndrome)12494
922*코드없음16단완11-12 미세결실 증후군16p11.2p12.2 microdeletion syndrome12595
923*코드없음18번 환염색체Ring chromosome 1812696
924*코드없음18번 염색체 단완 결손18p deletion12797
925*코드없음20장완 말단부 삼염색체증Distal trisomy 20q12898
926*코드없음20단완삼염색체증Trisomy 20p; 20p duplication12999
927*코드없음Xq28 중복 증후군Chromosome Xq28 duplication syndrome130100


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