Familial-genetic dilated cardiomyopathy

ICD-11 code : BC43.00;

Preferred Label : Familial-genetic dilated cardiomyopathy;

ICD-11 definition : Familial-genetic dilated cardiomyopathy is the presence of dilated cardiomyopathy that is present in multiple members of a pedigree, or in the presence of a genetic mutation known to be significantly associated with dilated cardiomyopathy. Additional information: Candidate cytoskeletal and Z disk–encoding genes, most of whom are hypothesized to lead to abnormalities in force transmission, include δ-sarcoglycan, β-sarcoglycan, desmin, lamin A/C, metavinculin, muscle LIM protein, titin, α-actinin-2, nebulette, myopalladin, and ZASP (Z band alternatively spliced PDZ domain protein);

ICD-11 synonym : familial dilated cardiomyopathy;

ICD-11 inclusion : familial congestive cardiomyopathy; primary familial dilated cardiomyopathy;

Details

Origin ID

423719003;

UMLS CUI

C0007193;

Automatic exact mappings (from CISMeF team)
- Cardiomyopathy, dilated, 1b [OMIM Phenotype]
- Familial dilated cardiomyopathy [MeSH concept]
- Familial dilated cardiomyopathy [ORDO Disease]
- Primary familial dilated cardiomyopathy (disorder) [SNOMED CT concept]
- familial dilated cardiomyopathy [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Congestive (dilated) cardiomyopathy [MedDRA LLT]
- Congestive cardiomyopathy [MedDRA Preferred Term]
- Congestive cardiomyopathy (disorder) [SNOMED CT concept]
- Dilated Cardiomyopathy [NCIt concept]
- Dilated cardiomyopathy [MedDRA LLT]
- Dilated cardiomyopathy [PASCAL descriptor]
- Dilated cardiomyopathy [HPO term]
- Dilated cardiomyopathy [ORDO Disease]
- Dilated cardiomyopathy [ICD-10 Sub-category (who)]
- Dilated cardiomyopathy [ICD-10 Sub-category]
- Primary dilated cardiomyopathy (disorder) [SNOMED CT concept]
- cardiomyopathy, dilated [MeSH Descriptor]
- cardiomyopathy, dilated [MeSH concept]
- congestive cardiomyopathy [SNOMED Notion]
- dilated cardiomyopathy [DO Concept]
- dilated cardiomyopathy [Disease (Nov.)]
- dilated cardiomyopathy [Radlex concept]
ICD-10 Mapping
- Dilated cardiomyopathy [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congestive (dilated) cardiomyopathy [MedDRA LLT]
- Congestive cardiomyopathy [MedDRA Preferred Term]
- Congestive cardiomyopathy [MedDRA LLT]
- Congestive cardiomyopathy (disorder) [SNOMED CT concept]
- Dilated Cardiomyopathy [NCIt concept]
- Dilated cardiomyopathy [HPO term]
- Dilated cardiomyopathy [ICD-10 Sub-category]
- Dilated cardiomyopathy [MedDRA LLT]
- Dilated cardiomyopathy [ORDO Disease]
- Dilated cardiomyopathy [PASCAL descriptor]
- Dilated cardiomyopathy [MedDRA Preferred Term]
- Primary dilated cardiomyopathy (disorder) [SNOMED CT concept]
- cardiomyopathy, dilated [MeSH Descriptor]
- cardiomyopathy, dilated [MeSH concept]
- congestive cardiomyopathy [SNOMED Notion]
- dilated cardiomyopathy [DO Concept]
- dilated cardiomyopathy [Disease (Nov.)]
- dilated cardiomyopathy [Radlex concept]
Validated automatic mappings to NTBT
- Dilated cardiomyopathy [OMIM phenotypic series]

Keyword's position in hierarchy(ies) :

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