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'MAGE family member L2'-gerelateerd Prader-Willi-achtig syndroom (aandoening)
'MAGE family member L2'-gerelateerd Prader-Willi-achtig syndroom
MAGEL2-gerelateerd PWLS
syndroom van Schaaf-Yang
MAGEL2-related Prader-Willi-like syndrome
Schaaf Yang syndrome
MAGE family member L2-related Prader-Willi-like syndrome
A rare Prader-Willi-like syndrome characterized by arthrogryposis, including contractures of the proximal and distal interphalangeal joints, and autism spectrum disorder due to MAGEL2 mutation. Overlapping phenotypes with Prader-Willi syndrome include hypotonia, feeding difficulties, weight gain, developmental delay, intellectual disability and hypogonadism. Minority of patients manifest hyperphagia and morbid obesity in contrast to patients with Prader-Willi syndrome.
Id1229946007
StatusPrimitive
SNOMED CT to Orphanet simple map398069
SNOMED CT to ICD-10 extended map
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified