cowchock syndrome

Preferred Label : cowchock syndrome;

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

MeSH synonym : NADMR; NAMSD; Charcot-Marie-Tooth disease with deafness and mental retardation; Charcot-Marie-Tooth disease, X-linked recessive, 4; neuropathy, axonal Motor-Sensory, with deafness and mental retardation;

Détails

Origin ID

C536450;

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]
MeSH term(s) associated for indexing
- X-Linked Intellectual Disability [MeSH Descriptor]
- charcot-marie-tooth disease [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
Record concept(s)
- Cowchock syndrome [MeSH 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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