Muscular dystrophy, congenital, infantile with cataract and hypogonadism

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

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0531846;

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]
Related record
- muscular dystrophy, congenital, infantile with cataract and hypogonadism [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Muscular dystrophy, congenital, with infantile cataract and hypogonadism [OMIM Phenotype]