Usher Syndrome Type 3

Preferred Label : Usher Syndrome Type 3;

NCIt definition : A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life.;

Details

Origin ID

C126329;

UMLS CUI

C1568248;

Currated CISMeF NLP mapping
- Retinitis pigmentosa-deafness syndrome type 3 (disorder) [SNOMED CT concept]
- Usher syndrome type 3 [DO Concept]
- Usher syndrome type 3 [ORDO Disease]
- Usher syndrome type 3 [ICD-11 More detail]
- Usher syndrome type III [Disease (Nov.)]
- retinitis pigmentosa-deafness syndrome [DO Concept]
- usher syndrome, type III [MeSH concept]
DO Cross reference
- Usher syndrome type 3 [DO Concept]
- retinitis pigmentosa-deafness syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Retinitis pigmentosa-deafness syndrome type 3 (disorder) [SNOMED CT concept]
- Usher syndrome type 3 [ORDO Disease]
- Usher syndrome type 3 [DO Concept]
- Usher syndrome type III [Disease (Nov.)]
- Usher syndrome type IIIa [Disease (Nov.)]
- Usher syndrome, type iiia [OMIM Phenotype]
- retinitis pigmentosa-deafness syndrome [DO Concept]
- usher syndrome, type III [MeSH concept]
Validated automatic mappings to BTNT
- Usher syndrome type IIIa [Disease (Nov.)]
- Usher syndrome, type iiia [OMIM Phenotype]
Validated automatic mappings to NTBT
- usher syndromes [MeSH Descriptor]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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