OMOP Concept 37109673
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
StandardConditionSNOMED723452007Disorder
Maps from
1
Descendants
0
Valid from
31 Jul 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 723452007 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome | Non-standard |
Synonyms
Alternative names recorded for Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome across source vocabularies.
- Peripheral neuropathy Fiskerstrand type
- PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract) syndrome
- PHARC syndrome
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder)
- síndrome de polineuropatía, hipoacusia, ataxia, retinitis pigmentosa y cataratas
- síndrome de polineuropatía, hipoacusia, ataxia, retinitis pigmentosa y cataratas (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(50)Roll up to these when you need a wider cohort.
- 1Auditory system hereditary disorder
- 1Autosomal recessive retinitis pigmentosa
- 1Disorder of lipid metabolism
- 1Hearing loss associated with syndrome
- 1Hereditary disorder of nervous system
- 1Polyneuropathy
- 2Autosomal recessive hereditary disorder
- 2Disorder of auditory system
- 2Disorder of lipoprotein AND/OR lipid metabolism
- 2Disorder of nervous system
- 2Hearing loss
- 2Hereditary disorder by system
- 2Peripheral nerve disease
- 2Retinitis pigmentosa
- 3Autosomal hereditary disorder
- 3Disorder of body system
- 3Disorder of soft tissue
- 3Disorder of the peripheral nervous system
- 3Ear and auditory finding
- 3Hearing disorder
- 3Hereditary disease
- 3Hereditary retinal dystrophy
- 3Metabolic disease
- 3Neuropathy
- 3Peripheral nerve finding
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