sohval soffer syndrome

Preferred Label : sohval soffer syndrome;

MeSH synonym : congenital testicular deficiency;

Origin ID

C536679;

UMLS CUI

C2931285;

Automatic exact mappings (from CISMeF team)
- Hypogonadism, male, with impaired intellectual development and skeletal anomalies [OMIM Phenotype]
Currated CISMeF NLP mapping
- Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) [SNOMED CT concept]
- Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- testicular diseases [MeSH Descriptor]
- testis [MeSH Descriptor]
ORDO relation(s)
- Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome [ORDO Disease]
Record concept(s)
- Sohval Soffer syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) [SNOMED CT concept]
- Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome [ORDO Disease]