cataract and cardiomyopathy

Preferred Label : cataract and cardiomyopathy;

MeSH note : mutation on acylglycerol kinase;

MeSH synonym : sengers syndrome; cardiomyopathy and cataract;

Details

Origin ID

C538280;

UMLS CUI

C1859317;

Currated CISMeF NLP mapping
- Cataract - cardiomyopathy [ICD-11 More detail]
- 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]
DO Cross reference
- Sengers syndrome [DO Concept]
MeSH term(s) associated for indexing
- cardiomyopathies [MeSH Descriptor]
- cataract [MeSH Descriptor]
ORDO relation(s)
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome [ORDO Disease]
Record concept(s)
- Cataract and cardiomyopathy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cataract - cardiomyopathy [ICD-11 More detail]
- 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]

Keyword's position in hierarchy(ies) :

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