| fatale infantiele hypertone myofibrillaire myopathie (aandoening) | | fatale infantiele hypertone myofibrillaire myopathie | | fatal infantile hypertonic myofibrillar myopathy
alfa-B-crystallinegerelateerde infantiele hypertone myofibrillaire myopathie
| | Fatal infantile hypertonic myofibrillar myopathy | | A rare genetic skeletal muscle disease with characteristics of muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death. There is the disease is caused by homozygous mutation in the CRYAB gene on chromosome 11q23. |
| | Id | 782883004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G71.2 | | Term | Congenitale myopathieën |
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| SNOMED CT to Orphanet simple map | 280553 |
| 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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