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Prader-Willi-achtig syndroom (aandoening)
Prader-Willi-achtig syndroom
PWLS
Prader-Willi-'like' syndroom
Prader-Willi-like syndrome
A rare group of multiple congenital anomalies/dysmorphic syndrome characterized by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogenous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.
Id770680004
StatusPrimitive
SNOMED CT to Orphanet simple map398073
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
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