| autosomaal recessieve 'limb-girdle'-spierdystrofie type 2Y (aandoening) | | autosomaal recessieve 'limb-girdle'-spierdystrofie type 2Y | | 'limb-girdle muscular dystrophy' door LAP1B-deficiëntie
LGMD2Y
autosomaal recessieve gordeldystrofie type 2Y
spierdystrofie met progressieve zwakte, distale contracturen en rigide wervelkolom
'limb-girdle'-spierdystrofie door torsine-1A-interagerend proteïne 1-deficiëntie
| | Autosomal recessive limb girdle muscular dystrophy type 2Y | | Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency
Muscular dystrophy with progressive weakness, distal contracture and rigid spine
Autosomal recessive muscular dystrophy due to LAP1B (lamin-associated protein 1B) deficiency
| | A form of limb-girdle muscular dystrophy presenting in the first or second decades of life with characteristics of slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function and mild cardiomyopathy. |
| | Id | 725907002 | | 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 | 424261 |
| 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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