muscular dystrophy, congenital, infantile with cataract and hypogonadism

Preferred Label : muscular dystrophy, congenital, infantile with cataract and hypogonadism;

MeSH synonym : familial congenital muscular dystrophy with gonadal dysgenesis; muscular dystrophy, congenital, with infantile cataract and hypogonadism;

Details

Origin ID

C537385;

UMLS CUI

C1850864;

Automatic exact mappings (from CISMeF team)
- Congenital muscular dystrophy - infantile cataract - hypogonadism [ICD-11 More detail]
CISMeF manual mappings
- Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome [ORDO Disease]
- Muscular dystrophy, congenital, with infantile cataract and hypogonadism [OMIM Phenotype]
MeSH term(s) associated for indexing
- cataract [MeSH Descriptor]
- hypogonadism [MeSH Descriptor]
- muscular dystrophies [MeSH Descriptor]
Record concept(s)
- Muscular dystrophy, congenital, infantile with cataract and hypogonadism [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Muscular dystrophy, congenital, with infantile cataract and hypogonadism [OMIM Phenotype]

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