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syndroom van holoprosencefalie met hypokinesie en congenitale gewrichtscontracturen (aandoening)
syndroom van holoprosencefalie met hypokinesie en congenitale gewrichtscontracturen
letale intra-uteriene groeirestrictie-corticale malformatie-congenitale contracturen-syndroom
syndroom van Morse-Rawnsley-Sargent
syndroom met letale intra-uteriene groeirestrictie, corticale malformatie en congenitale contracturen
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 morphologymorfologische afwijking
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interprets'range of motion' van gewricht
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map2570
SNOMED CT to ICD-10 extended map
TargetQ04.2
RuleTRUE
AdviceALWAYS Q04.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified