| 'limb-girdle'-spierdystrofie door deficiëntie van 'protein O-mannose kinase' (aandoening) | | 'limb-girdle'-spierdystrofie door deficiëntie van 'protein O-mannose kinase' | | gordeldystrofie door POMK-deficiëntie
LGMD door POMK-deficiëntie
'limb-girdle'-spierdystrofie door POMK-deficiëntie
| | Limb girdle muscular dystrophy due to POMK deficiency | | Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
| | A form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness and borderline intelligence. |
| | Id | 1234819007 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 445110 |
| 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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