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nemalinemyopathie type Amish (aandoening)
nemalinemyopathie type Amish
Amish-gerelateerde 'rod body'-myopathie
Amish nemaline myopathy
A type of nemaline myopathy only observed in several families of the Amish community. It has a neonatal onset and patients present with hypotonia associated to contractures, a severe pectus carinatum, and tremor that subside after 2-3 months of age. The causative gene is TNNT1 (19q13.4) and transmission follows an autosomal recessive pattern.
Id1197155007
StatusPrimitive
InterpretsMovement
SNOMED CT to Orphanet simple map98902
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