| syndroom van progressieve contracturen, 'limb girdle'-spierzwakte en spierdystrofie beginnend op kinderleeftijd (aandoening) | | syndroom van progressieve contracturen, 'limb girdle'-spierzwakte en spierdystrofie beginnend op kinderleeftijd | | syndroom van progressieve contracturen, 'limb girdle'-zwakte en spierdystrofie beginnend op kinderleeftijd
| | Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome | | A progressive muscular dystrophy with characteristics of co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies and a dystrophic pattern. |
| | Id | 1187251009 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 466921 |
| 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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