Usher Syndrome Type 2

Preferred Label : Usher Syndrome Type 2;

NCIt definition : A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa.;

Details

Origin ID

C126328;

UMLS CUI

C0339534;

Currated CISMeF NLP mapping
- Usher syndrome type 2 [DO Concept]
- Usher syndrome type 2 [ORDO Disease]
- Usher syndrome type 2 [ICD-11 More detail]
- Usher syndrome type 2 (disorder) [SNOMED CT concept]
- usher syndromes [MeSH Descriptor]
DO Cross reference
- Usher syndrome type 2 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Usher syndrome type 2 [DO Concept]
- Usher syndrome type 2 (disorder) [SNOMED CT concept]
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) :

You can consult :

recommendations
documents concerning education
documents for patients