Cowchock syndrome

Preferred Label : Cowchock syndrome;

CISMeF synonym : Neuropathy, axonal motor-sensory with deafness and mental retardation;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0530911;

UMLS CUI

C0795910;

Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease X-linked recessive 4 [DO Concept]
- Charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia [OMIM Phenotype]
- X-linked Charcot-Marie-Tooth disease type 4 [ICD-11 More detail]
- X-linked Charcot-Marie-Tooth disease type 4 [ORDO Disease]
- X-linked Charcot-Marie-Tooth disease type 4 (disorder) [SNOMED CT concept]
Has phenotype(s) (HPO)
- Deafness [HPO term]
- Type ii motor-sensory neuropathy [HPO term]
Related record
- cowchock syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia [OMIM Phenotype]
- X-linked Charcot-Marie-Tooth disease type 4 [ORDO Disease]
- X-linked Charcot-Marie-Tooth disease type 4 (disorder) [SNOMED CT concept]

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