46,Xy gonadal dysgenesis, partial, with minifascicular neuropathy

Preferred Label : 46,Xy gonadal dysgenesis, partial, with minifascicular neuropathy;

MeSH note : mutations in DHH;

Origin ID

C567773;

UMLS CUI

C2751325;

Currated CISMeF NLP mapping
- 46,XY gonadal dysgenesis - motor and sensory neuropathy [ICD-11 More detail]
- 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome (disorder) [SNOMED CT concept]
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome [ORDO Disease]
- 46,xy gonadal dysgenesis with minifascicular neuropathy [OMIM Phenotype]
MeSH term(s) associated for indexing
- gonadal dysgenesis, 46,xy [MeSH Descriptor]
- hedgehog proteins [MeSH Descriptor]
- polyneuropathies [MeSH Descriptor]
Record concept(s)
- 46,Xy gonadal dysgenesis, partial, with minifascicular neuropathy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome [ORDO Disease]
- 46,xy gonadal dysgenesis with minifascicular neuropathy [OMIM Phenotype]