martsolf syndrome

Preferred Label : martsolf syndrome;

MeSH synonym : cataract, mental retardation, hypogonadism; Cataract-Mental Retardation-Hypogonadism;

Origin ID

C536028;

UMLS CUI

C0796037;

Currated CISMeF NLP mapping
- Cataract - intellectual deficit - hypogonadism [ICD-11 More detail]
- Cataract-intellectual disability-hypogonadism syndrome [ORDO Disease]
- Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) [SNOMED CT concept]
- Martsolf syndrome [DO Concept]
- Martsolf syndrome [OMIM phenotypic series]
- Martsolf syndrome 1 [OMIM Phenotype]
DO Cross reference
- Martsolf syndrome [DO Concept]
Has phenotype(s) (HPO)
- Hypoplasia of the toes [HPO term]
- Low nasal bridge [HPO term]
- Mild maxillary hypoplasia [HPO term]
MeSH term(s) associated for indexing
- cataract [MeSH Descriptor]
- hypogonadism [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Record concept(s)
- Martsolf syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cataract - intellectual deficit - hypogonadism [ICD-11 More detail]
- Cataract-intellectual disability-hypogonadism syndrome [ORDO Disease]
- Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) [SNOMED CT concept]
- Martsolf syndrome [DO Concept]
- Martsolf syndrome 1 [OMIM Phenotype]