DiseaseID 3899
先天性心肌病
disease
NCI2016_02D:A rare disorder characterized by diffuse thickening of the endocardium. It presents with unexplained heart failure.|MSH2017_2016_08_12:A condition characterized by the thickening of ENDOCARDIUM due to prolife
Relationship Network
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Disease: 1Formula: 1Herb: 1Symptom: 3Target: 16Links: 29
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3899
- Core Entity Id
- 60165
- Source Entity Count
- 1
- Preferred Name
- Congenital Cardiomyopathy
- Name Cn
- 先天性心肌病
- Name Pinyin
- Xian Tian Xing Xin Ji Bing
- Name En
- Congenital Cardiomyopathy
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Cardiovascular Diseases
- Do Class
- disease of anatomical entity
- Hpo Class
- Abnormality of the cardiovascular system
- Mesh Class Name
- Cardiovascular Diseases
- Hpo Class Name
- Abnormality of the cardiovascular system
- Do Class Name
- disease of anatomical entity
- Disease Definition
- NCI2016_02D:A rare disorder characterized by diffuse thickening of the endocardium. It presents with unexplained heart failure.|MSH2017_2016_08_12:A condition characterized by the thickening of ENDOCARDIUM due to proliferation of fibrous and elastic tissue, usually in the left ventricle leading to impaired cardiac function (CARDIOMYOPATHY, RESTRICTIVE). It is most commonly seen in young children and rarely in adults. It is often associated with congenital heart anomalies (HEART DEFECTS CONGENITAL;) INFECTION; or gene mutation. Defects in the tafazzin protein, encoded by TAZ gene, result in a form of autosomal dominant familial endocardial fibroelastosis.|CSP2006:condition characterized by hypertrophy of the wall of the left ventricle and conversion of the endocardium into a thick fibroelastic coat, with the capacity of the ventricle sometimes reduced, but often increased.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Congenital Cardiomyopathy
Role
preferred
Name
Endocardial Fibroelastosis
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0001706
Herb
HBDIS000922HBDIS014125
Me Sh
D004695
Omim
226000
Umls
C0014117
Icd10
I42.4
Sym Map
SMDE08246
Do Class
DOID:7
Dis Ge Net
C0014117C1391997
Umls Sty
T019T047
Hpo Class
HP:0001626
Me Sh Class
C14
Etcm Disease
Endocardial Fibroelastosis
Tcmbank Disease
76809423
Itcmdb Generated
ITX-DISEASE-E994B8C4682F
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Page Title
Disease Endocardial Fibroelastosis Details page
Do Class Name
disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of the cardiovascular system
Do Disease Class
disease of anatomical entity
Hpo Disease Class
Abnormality of the cardiovascular system
Umls Disease Type
Disease or SyndromeDisease or Syndrome; Congenital Abnormality
Basic Information
Disease Name
Endocardial Fibroelastosis
Global Category
Rare diseases
Anatomical Category
Cardiovascular diseases
Disease Definition
NCI2016_02D:A rare disorder characterized by diffuse thickening of the endocardium. It presents with unexplained heart failure.|MSH2017_2016_08_12:A condition characterized by the thickening of ENDOCARDIUM due to proliferation of fibrous and elastic tissue, usually in the left ventricle leading to impaired cardiac function (CARDIOMYOPATHY, RESTRICTIVE). It is most commonly seen in young children and rarely in adults. It is often associated with congenital heart anomalies (HEART DEFECTS CONGENITAL;) INFECTION; or gene mutation. Defects in the tafazzin protein, encoded by TAZ gene, result in a form of autosomal dominant familial endocardial fibroelastosis.|CSP2006:condition characterized by hypertrophy of the wall of the left ventricle and conversion of the endocardium into a thick fibroelastic coat, with the capacity of the ventricle sometimes reduced, but often increased.
Me Sh Disease Class
Cardiovascular Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Cardiovascular Diseases
Umls Semantic Type Name
Disease or SyndromeDisease or Syndrome; Congenital Abnormality