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Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
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.
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
Id716169009
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteHead structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyContracture
Finding siteStructure of joint region
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationDecreased
InterpretsRange of joint movement
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified