gonadal dysgenesis XX type deafness

Preferred Label : gonadal dysgenesis XX type deafness;

MeSH synonym : ovarian dysgenesis with sensorineural deafness; perrault syndrome;

Related MeSH term : 17-beta-hydroxysteroid dehydrogenase 4, deficiency of; Peroxisomal bifunctional enzyme complex deficiency;

Details

Origin ID

C537286;

UMLS CUI

C0685838;

Automatic exact mappings (from CISMeF team)
- Bifunctional peroxisomal enzyme deficiency (disorder) [SNOMED CT concept]
- D-bifunctional protein deficiency [OMIM Phenotype]
- Perrault syndrome [ICD-11 More detail]
- Perrault syndrome [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder) [SNOMED CT concept]
- Perrault syndrome [DO Concept]
- Perrault syndrome [ORDO Disease]
- Perrault syndrome 1 [OMIM Phenotype]
- gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance [SNOMED Notion]
MeSH term(s) associated for indexing
- gonadal dysgenesis, 46,xx [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
Record concept(s)
- Gonadal dysgenesis XX type deafness [MeSH concept]
- Peroxisomal bifunctional enzyme deficiency [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same 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 with auditory dysfunction, autosomal recessive inheritance [SNOMED Notion]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients