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spinale musculaire atrofie met congenitale botfracturen met prenatale aanvang (aandoening)
spinale musculaire atrofie met congenitale botfracturen met prenatale aanvang
spinale spieratrofie met congenitale botbreuken met prenatale aanvang
SMABF
Prenatal-onset spinal muscular atrophy with congenital bone fractures
A rare genetic motor neuron disease with characteristics of decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita) and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure.
Id1172689007
StatusPrimitive
Has interpretationverlaagd
Interprets'range of motion' van gewricht
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map486811
SNOMED CT to ICD-10 extended map
TargetG12.2
RuleTRUE
AdviceALWAYS G12.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified