OMOP Concept 4240613
Retinitis pigmentosa-deafness syndrome
StandardConditionSNOMED57838006Disorder
Maps from
6
Descendants
5
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
6 source codes normalize to Retinitis pigmentosa-deafness syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 127529 | Retinitis Pigmentosa-Deafness Syndrome | Non-standard |
| ICD10CM | Q99.81 | Usher syndrome | Non-standard |
| ICD10CM | Q99.818 | Other Usher syndrome | Non-standard |
| ICD10CM | Q99.819 | Usher syndrome, unspecified | Non-standard |
| MeSH | D052245 | Usher Syndromes | Non-standard |
| Read | PKy5800 | Usher's syndrome | Non-standard |
Synonyms
Alternative names recorded for Retinitis pigmentosa-deafness syndrome across source vocabularies.
- Retinitis pigmentosa-deafness syndrome (disorder)
- síndrome de retinitis pigmentaria - sordera
- síndrome de retinitis pigmentaria - sordera (trastorno)
- síndrome de Usher
- Usher's syndrome
- Usher syndrome
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(46)Roll up to these when you need a wider cohort.
- 1Autosomal recessive retinitis pigmentosa
- 1Congenital malformation
- 1Congenital sensorineural hearing loss
- 1Developmental hereditary disorder
- 1Hereditary hearing loss
- 2Auditory system hereditary disorder
- 2Autosomal recessive hereditary disorder
- 2Congenital disease
- 2Congenital hearing disorder
- 2Developmental disorder
- 2Hearing loss
- 2Hereditary disease
- 2Retinitis pigmentosa
- 2Sensorineural hearing loss
- 3Autosomal hereditary disorder
- 3Disease
- 3Disorder of auditory system
- 3Fetal and/or neonatal disorder
- 3Genetic disease
- 3Hearing disorder
- 3Hereditary disorder by system
- 3Hereditary retinal dystrophy
- 4Clinical finding
- 4Disorder of body system
- 4Ear and auditory finding
Showing 25 of 46. Retrieve the full set via the API.
Narrower concepts
(5)Included automatically when you query with descendants.
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