Usher syndrome

ICD-11 code : LD2H.4;

Preferred Label : Usher syndrome;

ICD-11 definition : Usher syndrome is the most common cause of hereditary combined deafness-blindness, and is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss.;

Details

Origin ID

1452641873;

Automatic exact mappings (from CISMeF team)
- Usher syndrome [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Retinitis pigmentosa-deafness syndrome [OMIM Phenotype]
- Retinitis pigmentosa-deafness syndrome (disorder) [SNOMED CT concept]
- Usher Syndrome [NCIt concept]
- Usher syndrome [PASCAL descriptor]
- Usher syndrome [ORDO Disease]
- Usher syndrome [DO Concept]
- Usher syndrome [Disease (Nov.)]
- Usher syndrome type 1 (disorder) [SNOMED CT concept]
- Usher's syndrome [MedDRA Preferred Term]
- retinitis pigmentosa-deafness syndrome [SNOMED Notion]
- retinitis pigmentosa-deafness syndrome [DO Concept]
- usher syndrome [MedlinePlus Topic]
- usher syndromes [MeSH Descriptor]
- usher syndromes [MeSH concept]
ICD-10 Mapping
- Other specified congenital malformation syndromes, not elsewhere classified [ICD-10 Sub-category]

Keyword's position in hierarchy(ies) :

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