Distal hereditary motor neuropathy type 1

Preferred Label : Distal hereditary motor neuropathy type 1;

ICD-11 definition : Patients with DHMN1 develop distal lower limb weakness with or without pes cavus, typically in the first decade of life. Some patients may show increased lower limb muscle tone or extensor plantar responses. Weakness is slowly progressive but life expectancy is normal. Linkage analyses have identified a disease locus at 7q34-q36.;

ICD-11 synonym : DHMN1 - [Distal hereditary motor neuropathy type 1];

ICD-11 acronym : DHMN1;

Details

Origin ID

1049436513;

Automatic exact mappings (from CISMeF team)
- charcot-marie-tooth disease [MeSH Descriptor]
Currated CISMeF NLP mapping
- Distal Hereditary Motor Neuronopathy Type I [NCIt concept]
- Distal hereditary motor neuropathy type 1 [ORDO Disease]
- Distal hereditary motor neuropathy type 1 (disorder) [SNOMED CT concept]
- Neuronopathy, distal hereditary motor, autosomal dominant 1 [OMIM Phenotype]
- distal hereditary motor neuronopathy type 1 [DO Concept]
- neuronopathy, distal hereditary motor, type I [MeSH Supplementary Concept]
- neuronopathy, distal hereditary motor, type I [MeSH concept]

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