cardiomyopathy dilated with woolly hair and keratoderma

Preferred Label : cardiomyopathy dilated with woolly hair and keratoderma;

MeSH synonym : DCWHK; palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair; carvajal syndrome; epidermolytic palmoplantar keratoderma, woolly hair, and dilated cardiomyopathy; cardiomyopathy, dilated, with woolly hair and keratoderma;

Details

Origin ID

C535581;

UMLS CUI

C1854063;

Automatic exact mappings (from CISMeF team)
- Woolly hair – palmoplantar keratoderma – dilated cardiomyopathy [ICD-11 More detail]
CISMeF manual mappings
- Carvajal syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Cardiomyopathy, dilated, with woolly hair and keratoderma [OMIM Phenotype]
- Carvajal syndrome [PASCAL descriptor]
- Carvajal syndrome [DO Concept]
- Carvajal syndrome [Disease (Nov.)]
- Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- cardiomyopathies [MeSH Descriptor]
- cardiomyopathy, dilated [MeSH Descriptor]
- hair diseases [MeSH Descriptor]
- keratoderma, palmoplantar [MeSH Descriptor]
Record concept(s)
- Cardiomyopathy dilated with Woolly hair and keratoderma [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cardiomyopathy, dilated, with woolly hair and keratoderma [OMIM Phenotype]
- Carvajal syndrome [ORDO Disease]
- Carvajal syndrome [DO Concept]
- Carvajal syndrome [PASCAL descriptor]
- Carvajal syndrome [Disease (Nov.)]
- Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome (disorder) [SNOMED CT concept]

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