| syndroom van tweedemotorneuronziekte beginnend op late volwassen leeftijd (aandoening) | | syndroom van tweedemotorneuronziekte beginnend op late volwassen leeftijd | | syndroom van 'lower motor neuron disease'
LMND beginnend op late volwassen leeftijd
| | Lower motor neuron syndrome with late-adult onset | | A rare genetic motor neuron disease with characteristics of slowly progressive predominantly proximal muscular weakness and atrophy which typically manifests with muscle cramps, fasciculations, decreased/absent deep tendon reflexes, hand tremor and elevated serum creatine kinase at onset and later associates gait disturbances and impaired vibration sensation. There is evidence the disease is caused by heterozygous mutation in the CHCHD10 gene on chromosome 22q11. |
| | Id | 783618006 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G12.1 | | Term | Overige erfelijke vormen van spinale spieratrofie |
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| SNOMED CT to Orphanet simple map | 276435 |
| SNOMED CT to ICD-10 extended map | | Target | G12.1 | | Rule | TRUE | | Advice | ALWAYS G12.1 | 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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