autosomaal recessieve 'limb-girdle'-spierdystrofie type 2N (aandoening) | | autosomaal recessieve 'limb-girdle'-spierdystrofie type 2N | | LGMD2N
| | Autosomal recessive limb girdle muscular dystrophy type 2N | | A form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability). |
| Id | 726617002 | 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 | 206559 |
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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