| 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. |
| | Id | 1197155007 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 98902 |
| SNOMED CT to ICD-10 extended map | | Target | G71.2 | | Rule | TRUE | | Advice | ALWAYS G71.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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