| autosomaal recessieve 'limb-girdle'-spierdystrofie type 2F (aandoening) | | autosomaal recessieve 'limb-girdle'-spierdystrofie type 2F | | delta-sarcoglycanopathie
'limb-girdle muscular dystrophy' door delta-sarcoglycaandeficiëntie
autosomaal recessieve gordeldystrofie type 2F
LGMD2F
| | Autosomal recessive limb girdle muscular dystrophy type 2F | | Limb girdle muscular dystrophy due to delta-sarcoglycan deficiency
| | A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuro-psychomotor development is usually normal. |
| | Id | 718177001 | | 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 | 219 |
| 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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