OMOP Concept 4101333
HSMN IV
StandardConditionSNOMED25362006Disorder
Maps from
12
Descendants
1
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
12 source codes normalize to HSMN IV via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 114152 | Refsum's disease | Non-standard |
| CIM10 | G60.1 | Refsum disease | Non-standard |
| ICD10 | G60.1 | Refsum disease | Non-standard |
| ICD10CM | G60.1 | Refsum's disease | Non-standard |
| ICD10CN | G60.1 | Refsum disease | Non-standard |
| ICD10CN | G60.100 | Refsum disease | Non-standard |
| ICD10GM | G60.1 | Refsum disease | Non-standard |
| ICD9CM | 356.3 | Refsum's disease | Non-standard |
| KCD7 | G60.1 | Refsum’s disease | Non-standard |
| MeSH | D012035 | Refsum Disease | Non-standard |
| Read | F363.00 | Refsum's disease | Non-standard |
| Read | F368300 | Hereditary motor and sensory neuropathy type IV | Non-standard |
Synonyms
Alternative names recorded for HSMN IV across source vocabularies.
- enfermedad de Refsum
- enfermedad de Refsum - Thiébaut
- enfermedad por almacenamiento de ácido fitánico
- enfermedad por almacenamiento de ácido fitánico (trastorno)
- Hereditary motor and sensory neuropathy type IV
- Hereditary motor and sensory neuropathy, type IV
- Hereditary sensory-motor neuropathy, type IV
- Heredoataxia hemeralopica polyneuritiformis
- heredoataxia hemoralópica polineuritiformis
- Heredoataxic atactica polyneuritiformis
- Heredoataxic hemeralopica polyneuritiformis
- Heredopathia atactica polyneuritiformis
- neuropatía motora - sensitiva hereditaria, tipo IV
- Phytanic acid storage disease
- Phytanic acid storage disease (disorder)
- Refsum's disease
- Refsum syndrome
- Refsum-Thiebaut disease
- Refsum-Thiébaut disease
- síndrome de Refsum
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(49)Roll up to these when you need a wider cohort.
- 1Disorder of fatty acid metabolism
- 1Hereditary degenerative disease of central nervous system
- 1Hereditary motor and sensory neuropathy
- 1Inherited metabolic disorder of nervous system
- 1Leukodystrophy
- 1Retinitis pigmentosa
- 1Storage disease
- 2Degenerative disease of the central nervous system
- 2Disorder of lipoprotein AND/OR lipid metabolism
- 2Disorder of organic acid metabolism
- 2Hereditary disorder of nervous system
- 2Hereditary peripheral neuropathy
- 2Hereditary retinal dystrophy
- 2Inborn error of metabolism
- 2Neurological lesion
- 2Neuropathy
- 3Clinical finding
- 3Congenital disease
- 3Degenerative disorder
- 3Disorder of nervous system
- 3Disorder of the central nervous system
- 3Disorder of the peripheral nervous system
- 3Hereditary disorder by system
- 3Hereditary disorder of the visual system
- 3Hereditary metabolic disease
Showing 25 of 49. Retrieve the full set via the API.
Narrower concepts
(1)Included automatically when you query with descendants.
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