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4p-syndroom (aandoening)
4p-syndroom
distale monosomie 4p
telomerische deletie 4p
Wolf-Hirschhorn-syndroom
syndroom van Wolf-Hirschhorn
4p-deletiesyndroom
WHS
distale deletie 4p
syndroom van Wolf-Hirschhorn
WHS
Chromosoomafwijking met als kenmerken een groeistoornis, spierslapte, een verstandelijke beperking en schisis (gehemeltespleet).
Wolf Hirschhorn syndrome
Wolf-Hirschhorn syndrome is a developmental disorder with characteristics of typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. Caused by a deletion in the short arm of the 4th chromosome (4p16.3 region), including at least part of the LETM1 and WHSC1 genes. Most cases are sporadic, but an unbalanced translocation may be inherited from a parent with a balanced rearrangement.
Id718226002
StatusPrimitive
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetQ93.3
RuleTRUE
AdviceALWAYS Q93.3
CorrelationSNOMED CT source code to target map code correlation not specified