| autosomaal recessieve 'limb-girdle'-spierdystrofie type 2J (aandoening) | | autosomaal recessieve 'limb-girdle'-spierdystrofie type 2J | | LGMD2J
| | Autosomal recessive limb girdle muscular dystrophy type 2J | | Limb-girdle muscular dystrophy 2J titin gene mutation
| | A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset. Caused by homozygous mutation in the titin gene (TTN). |
| | Id | 725042001 | | 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 | 140922 |
| SNOMED CT to ICD-10 extended map | | Target | G71.0 | | Rule | TRUE | | Advice | ALWAYS G71.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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