Muscular dystrophy, congenital, with infantile cataract and hypogonadism

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

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Bassoe (1956) described a syndrome of congenital muscular dystrophy, infantile cataract, and hypogonadism (in females ovarian agenesis, in males Klinefelter syndrome). Seven persons living in a small, isolated Norwegian village were identified. *FIELD* RF 1. Bassoe, H. H.: Familial congenital muscular dystrophy with gonadal dysgenesis. J. Clin. Endocr. 16: 1614-1621, 1956. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : 254000;

Détails

Origin ID

254000;

UMLS CUI

C1850864;

Automatic exact mappings (from CISMeF team)
- Congenital muscular dystrophy - infantile cataract - hypogonadism [ICD-11 More detail]
Currated CISMeF NLP mapping
- Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome [ORDO Disease]
- Muscular dystrophy, congenital, infantile with cataract and hypogonadism [MeSH concept]
- muscular dystrophy, congenital, infantile with cataract and hypogonadism [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Congenital muscular dystrophy [HPO term]
- Hypogonadism [HPO term]
ORDO concept(s)
- Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Muscular dystrophy, congenital, infantile with cataract and hypogonadism [MeSH concept]
- muscular dystrophy, congenital, infantile with cataract and hypogonadism [MeSH Supplementary Concept]

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