Usher Syndrome Type 1

Preferred Label : Usher Syndrome Type 1;

NCIt definition : A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa.;

Details

Origin ID

C126327;

UMLS CUI

C1568247;

Currated CISMeF NLP mapping
- Usher syndrome type 1 [DO Concept]
- Usher syndrome type 1 [ORDO Disease]
- Usher syndrome type 1 [ICD-11 More detail]
- Usher syndrome type I [Disease (Nov.)]
- Usher syndrome, type I [OMIM Phenotype]
- usher syndrome, type I [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Usher syndrome type 1 (disorder) [SNOMED CT concept]
- Usher syndrome type I [Disease (Nov.)]
- Usher syndrome, type I [OMIM Phenotype]
Validated automatic mappings to NTBT
- Usher syndrome type 1 (disorder) [SNOMED CT concept]
- usher syndromes [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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