OMOP Concept 37110720
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
StandardConditionSNOMED725047007Disorder
Maps from
2
Descendants
0
Valid from
31 Jul 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to Autosomal recessive Charcot-Marie-Tooth disease with hoarseness via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C535418 | Charcot-Marie-Tooth disease, Type 2K | Non-standard |
| Nebraska Lexicon | 725047007 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | Non-standard |
Synonyms
Alternative names recorded for Autosomal recessive Charcot-Marie-Tooth disease with hoarseness across source vocabularies.
- Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder)
- enfermedad de Charcot-Marie-Tooth autosómica recesiva axonal tipo 2K
- enfermedad de Charcot-Marie-Tooth autosómica recesiva con disfonía
- enfermedad de Charcot-Marie-Tooth autosómica recesiva con disfonía (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(17)Roll up to these when you need a wider cohort.
- 1Autosomal recessive Charcot-Marie-Tooth disease type 2
- 2Autosomal recessive hereditary disorder
- 2Charcot-Marie-Tooth disease, type II
- 3Autosomal hereditary disorder
- 3Degenerative disorder
- 3Hereditary motor and sensory neuropathy
- 3Neuropathy
- 4Disease
- 4Disorder of nervous system
- 4Hereditary disease
- 4Hereditary peripheral neuropathy
- 5Clinical finding
- 5Disorder of body system
- 5Disorder of the peripheral nervous system
- 5Genetic disease
- 5Hereditary disorder of nervous system
- 6Hereditary disorder by system
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