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syndroom van holoprosencefalie met hypokinesie en congenitale gewrichtscontracturen (aandoening)
syndroom van holoprosencefalie met hypokinesie en congenitale gewrichtscontracturen
syndroom met letale intra-uteriene groeirestrictie, corticale malformatie en congenitale contracturen
letale intra-uteriene groeirestrictie-corticale malformatie-congenitale contracturen-syndroom
syndroom van Morse-Rawnsley-Sargent
Morse Rawnsley Sargent syndrome
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome
An extremely rare fatal central nervous system malformation occurring during embryogenesis presenting prenatally on the ultrasound with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures, intrauterine growth restriction. An X-linked recessive inheritance has been suggested.
Id716169009
StatusPrimitive
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interprets‘range of motion’ van gewricht
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified