Autosomal recessive lower motor neuron disease with childhood onset

Preferred Label : Autosomal recessive lower motor neuron disease with childhood onset;

ICD-11 definition : A single consanguinous family from Mali was reported to develop severe features of distal spinal muscular atrophy in early childhood. Respiratory failure was documented in a proportion of patients. A homozygous mutation in the PLEKHG5 gene (1p36.31) was identified.;

ICD-11 synonym : dSMA4 - [Autosomal recessive distal spinal muscular atrophy type 4]; Autosomal recessive distal spinal muscular atrophy type 4; dSMA4;

Details

Origin ID

1852084767;

Currated CISMeF NLP mapping
- Autosomal recessive lower motor neuron disease with childhood onset [ORDO Disease]
- Autosomal recessive lower motor neuron disease with childhood onset (disorder) [SNOMED CT concept]
- Neuronopathy, distal hereditary motor, autosomal recessive 4 [OMIM Phenotype]
- distal spinal muscular atrophy type 4 [DO Concept]
- spinal muscular atrophy, distal, autosomal recessive, 4 [MeSH Supplementary Concept]
- spinal muscular atrophy, distal, autosomal recessive, 4 [MeSH concept]
See also inter- (CISMeF)
- PLEKHG5 wt Allele [NCIt concept]

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