spinal muscular atrophy, distal, autosomal recessive, 4

Preferred Label : spinal muscular atrophy, distal, autosomal recessive, 4;

MeSH note : aka DSMA4; mutations in PLEKHG5;

MeSH synonym : Dsma4;

Details

Origin ID

C567023;

UMLS CUI

C1970211;

Currated CISMeF NLP mapping
- Autosomal recessive lower motor neuron disease with childhood onset [ICD-11 More detail]
- 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]
DO Cross reference
- distal spinal muscular atrophy type 4 [DO Concept]
MeSH term(s) associated for indexing
- spinal muscular atrophies of childhood [MeSH Descriptor]
Record concept(s)
- spinal muscular atrophy, distal, autosomal recessive, 4 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 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]

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