Cataract - cardiomyopathy

Preferred Label : Cataract - cardiomyopathy;

ICD-11 definition : Cataract-cardiomyopathy is characterized by congenital cataracts, hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis.;

ICD-11 synonym : Sengers syndrome;

Details

Origin ID

22670425;

UMLS CUI

C1859317;

Currated CISMeF NLP mapping
- Cataract and cardiomyopathy [MeSH concept]
- Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) [SNOMED CT concept]
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome [ORDO Disease]
- Sengers syndrome [OMIM Phenotype]
- Sengers syndrome [DO Concept]
- cataract and cardiomyopathy [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cataract and cardiomyopathy [MeSH concept]
- Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) [SNOMED CT concept]
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome [ORDO Disease]
- Sengers syndrome [DO Concept]
- Sengers syndrome [OMIM Phenotype]
- cataract and cardiomyopathy [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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