| autosomaal dominante proximale spinale spieratrofie beginnend op volwassen leeftijd (aandoening) | | autosomaal dominante proximale spinale spieratrofie beginnend op volwassen leeftijd | | autosomaal dominante PSMA beginnend op volwassen leeftijd
autosomaal dominante proximale spinale musculaire atrofie beginnend op volwassen leeftijd
| | Autosomal dominant adult-onset proximal spinal muscular atrophy | | Finkel disease
Autosomal dominant late-onset spinal muscular atrophy Finkel type
SMAFK - spinal muscular atrophy Finkel type
| | A rare genetic motor neuron disease with characteristics of adult-onset of slowly progressive proximal muscular weakness with fasciculations, amyotrophy, cramps and absent/hypoactive reflexes without bulbar or pyramidal involvement. Caused by heterozygous mutation in the gene encoding vesicle-associated membrane protein-associated protein B (VAPB) on chromosome 20q13. |
| | Id | 784391002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 209335 |
| SNOMED CT to ICD-10 extended map | | Target | G12.1 | | Rule | TRUE | | Advice | ALWAYS G12.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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