| autosomaal recessieve 'limb-girdle'-spierdystrofie type 2K (aandoening) | | autosomaal recessieve 'limb-girdle'-spierdystrofie type 2K | | LGMD2K
| | Autosomal recessive limb girdle muscular dystrophy type 2K | | Limb girdle muscular dystrophy with intellectual disability syndrome
| | A form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported. |
| | Id | 720523006 | | 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 | 86812 |
| 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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