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autosomaal recessieve congenitale myopathie met vezeltypedisproportie door mutatie van tropomyosine 3 (aandoening)
autosomaal recessieve congenitale myopathie met vezeltypedisproportie door mutatie van tropomyosine 3
autosomaal recessieve congenitale 'fiber-type disproportion myopathy' door mutatie van TPM3
autosomaal recessieve CFTDM door TPM3-mutatie
Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation
Autosomal recessive congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation
A rare autosomal recessive congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Causative gene mutation is TPM3 (1q21.3).
Id1208417009
StatusDefined
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