vroeg optredende nemalinemyopathie
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ernstige congenitale nemalinemyopathie (aandoening)
ernstige congenitale nemalinemyopathie
ernstige congenitale 'rod body'-myopathie
Severe congenital nemaline myopathy
A severe form of nemaline myopathy with characteristics of severe hypotonia with little spontaneous movement in neonates. Neonates have sucking and swallowing difficulties, and gastroesophageal reflux, which leads to failure to thrive. Involvement of diaphragm and intercostal muscles contributes to respiratory insufficiency. Cardiomyopathy and arthrogryposis may occur. The ACTA1 (1q42.13) and NEB (2q22) genes are associated with this form of the disease. Transmission is autosomal recessive or occurs sporadically. Survival after infancy is rare.
Id1197157004
StatusPrimitive
Finding sitestructuur van skeletspier
Occurrencecongenitaal
InterpretsMovement
SNOMED CT to Orphanet simple map171430
SNOMED CT to ICD-10 extended map
TargetG71.2
RuleTRUE
AdviceALWAYS G71.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified