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 with characteristics of 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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