| syndroom van hereditaire 'inclusion body'-myopathie, artrogene contractuur en oftalmoplegie (aandoening) | | syndroom van hereditaire 'inclusion body'-myopathie, artrogene contractuur en oftalmoplegie | | Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome | | Inclusion body myopathy type 3
Hereditary inclusion body myopathy type 3
| | Disease characterized by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia and proximal muscle weakness. In adult cases, the muscular weakness is progressive. Nineteen affected individuals have been described from one large family. The causative gene, the hereditary inclusion-body myopathy (IBM3) gene, has been mapped to chromosome region 17p13.1. Inheritance is autosomal dominant. |
| | Id | 724349009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| ICD-10 complex map reference set | | Target | G71.8 | | Rule | TRUE | | Advice | ALWAYS G71.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | Q68.8 | | Rule | TRUE | | Advice | ALWAYS Q68.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | H49.8 | | Rule | TRUE | | Advice | ALWAYS H49.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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