| vroeg optredende KLHL9-gerelateerde distale myopathie (aandoening) | | vroeg optredende KLHL9-gerelateerde distale myopathie | | juveniele KLHL9-gerelateerde distale myopathie
| | KLHL9-related early-onset distal myopathy | | Kelch like family member 9 related early-onset distal myopathy
| | A rare genetic distal myopathy with characteristics of slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life. |
| | Id | 763776004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G71.0 | | Term | Spierdystrofie |
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| SNOMED CT to Orphanet simple map | 399081 |
| SNOMED CT to ICD-10 extended map | | Target | G71.0 | | Rule | TRUE | | Advice | ALWAYS G71.0 | 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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