| autosomaal recessieve 'limb-girdle'-spierdystrofie type 2C (aandoening) | | autosomaal recessieve 'limb-girdle'-spierdystrofie type 2C | | autosomaal recessieve gordeldystrofie type 2C
LGMD2C
'limb-girdle muscular dystrophy' door gamma-sarcoglycaandeficiëntie
gamma-sarcoglycanopathie
| | Autosomal recessive limb girdle muscular dystrophy type 2C | | Limb girdle muscular dystrophy due to gamma-sarcoglycan deficiency
| | A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported. |
| | Id | 718176005 | | Status | Primitive |
| SNOMED CT to Orphanet simple map |
| DHD Diagnosis thesaurus reference set |
| 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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| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G71.0 | | Term | Spierdystrofie |
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