Autosomal recessive hereditary disorder
Hereditary disorder of musculoskeletal system
Nemaline myopathy, early onset type
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Amish nemaline myopathy (disorder)
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
Finding siteSkeletal muscle structure
OccurrenceCongenital
ICD-10 complex map reference set
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