spinal muscular atrophy with respiratory distress 1

Preferred Label : spinal muscular atrophy with respiratory distress 1;

MeSH synonym : spinal muscular atrophy, diaphragmatic; neuronopathy, severe infantile axonal, with respiratory failure; severe infantile axonal neuropathy with respiratory failure; spinal muscular atrophy, distal, autosomal recessive, 1; neuronopathy, distal hereditary motor, type VI; spinal muscular atrophy with respiratory distress type 1; autosomal recessive distal spinal muscular atrophy 1; Dhmn6; diaphragmatic spinal muscular atrophy; distal hereditary motor neuronopathy type vi; distal spinal muscular atrophy type 1; Dsma1; Hmn6; hmnvi; sianrf; Smard1; spinal muscular atrophy with respiratory distress;

Details

Origin ID

C536880;

UMLS CUI

C1858517;

CISMeF manual mappings
- Spinal muscular atrophy with respiratory distress type 1 [ORDO Disease]
Currated CISMeF NLP mapping
- Neuronopathy, distal hereditary motor, autosomal recessive 1 [OMIM Phenotype]
- Spinal muscular atrophy with respiratory distress type 1 (disorder) [SNOMED CT concept]
- distal spinal muscular atrophy 1 [DO Concept]
MeSH term(s) associated for indexing
- muscular atrophy, spinal [MeSH Descriptor]
- respiratory distress syndrome, newborn [MeSH Descriptor]
Record concept(s)
- Spinal muscular atrophy with respiratory distress 1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neuronopathy, distal hereditary motor, autosomal recessive 1 [OMIM Phenotype]
- Spinal muscular atrophy with respiratory distress type 1 [ORDO Disease]
- Spinal muscular atrophy with respiratory distress type 1 (disorder) [SNOMED CT concept]
- distal spinal muscular atrophy 1 [DO Concept]

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