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myopathisch Ehlers-Danlos-syndroom (aandoening)
myopathisch Ehlers-Danlos-syndroom
myopathisch EDS
myopathische cutis hyperelastica
mEDS
Myopathic Ehlers-Danlos syndrome
Myopathic EDS (Ehlers-Danlos syndrome)
Ehlers-Danlos myopathy overlap syndrome
A rare systemic disease with characteristics of congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures (knee, hip, elbow), and hypermobility of distal joints. Additional features include soft, doughy skin, atrophic scarring, delayed motor development and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis.
Id1255116001
StatusPrimitive
Has interpretationverlaagd
Interprets'range of motion' van gewricht
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
SNOMED CT to ICD-10 extended map
TargetQ79.6
RuleTRUE
AdviceALWAYS Q79.6 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified