Cataract - intellectual deficit - hypogonadism

Preferred Label : Cataract - intellectual deficit - hypogonadism;

ICD-11 definition : This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Less than 20 cases have been described in the literature so far. Besides the three main features of the syndrome, other anomalies have been reported in some of the affected patients including short stature, minor digital abnormalities, microcephaly, cardiomyopathy, heart failure, and mild facial dysmorphism (micrognathia, maxilla hypoplasia, low posterior hairline and large ears). Transmission is autosomal recessive and mutations in the RAB3GAP2 gene have been identified in some patients.;

Details

Origin ID

702011756;

UMLS CUI

C0796037;

Currated CISMeF NLP mapping
- Cataract-intellectual disability-hypogonadism syndrome [ORDO Disease]
- Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) [SNOMED CT concept]
- Martsolf syndrome [MeSH concept]
- Martsolf syndrome [OMIM phenotypic series]
- Martsolf syndrome [DO Concept]
- Martsolf syndrome 1 [OMIM Phenotype]
- martsolf syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cataract-intellectual disability-hypogonadism syndrome [ORDO Disease]
- Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) [SNOMED CT concept]
- Martsolf syndrome [MeSH concept]
- Martsolf syndrome [DO Concept]
- Martsolf syndrome 1 [OMIM Phenotype]
- martsolf syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients