gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance

Preferred Label : gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance;

Origin ID

D4-80052;

UMLS CUI

C0685838;

Automatic exact mappings (from CISMeF team)
- Perrault syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder) [SNOMED CT concept]
- Perrault syndrome [ORDO Disease]
- Perrault syndrome 1 [OMIM Phenotype]
- gonadal dysgenesis XX type deafness [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Gonadal dysgenesis of gynecological interest [ORDO Disease]
- Non-acquired premature ovarian failure [ORDO Disease]
- Syndromic genetic deafness [ORDO Disease]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder) [SNOMED CT concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gonadal dysgenesis XX type deafness [MeSH concept]
- Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder) [SNOMED CT concept]
- Perrault syndrome [ORDO Disease]
- Perrault syndrome [DO Concept]
- Perrault syndrome 1 [OMIM Phenotype]
- gonadal dysgenesis XX type deafness [MeSH Supplementary Concept]