Preferred Label : Spinal muscular atrophy with respiratory distress;
ICD-11 definition : Most patients with SMARD present in the first 3 months of life with severe respiratory
weakness and progressive muscle weakness. Other characteristic features include intrauterine
growth retardation, premature birth and foot deformities. Diaphragmatic eventration
may be observed. Death usually occurs by 12 months of age.;
ICD-11 synonym : Distal hereditary motor neuronopathy type 6; Severe infantile axonal neuropathy with respiratory failure; SMARD - [Spinal muscular atrophy with respiratory distress];
ICD-11 acronym : SMARD;
Origin ID : 960321619;
Automatic exact mappings (from CISMeF team)
Most patients with SMARD present in the first 3 months of life with severe respiratory
weakness and progressive muscle weakness. Other characteristic features include intrauterine
growth retardation, premature birth and foot deformities. Diaphragmatic eventration
may be observed. Death usually occurs by 12 months of age.
