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syndroom van cutis laxa, corneatroebeling en verstandelijke beperking (aandoening)
syndroom van cutis laxa, corneatroebeling en verstandelijke beperking
progeroïde syndroom type De Barsy
syndroom van cutis laxa, corneatroebeling en verstandelijke handicap
syndroom van De Barsy
De Barsy-syndroom
syndroom van cutis laxa, corneatroebeling en mentale retardatie
de Barsey syndrome
Progeroid syndrome of de Barsey
de Barsey-Moens-Dierckx syndrome
Autosomal recessive cutis laxa type III
Cutis laxa-corneal clouding-oligophrenia syndrome
A syndrome with characteristics of facial dysmorphism, a progeroid appearance, large and late closing fontanelle, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.
Id59252009
StatusPrimitive
Associated morphologytroebeling
Finding sitestructuur van cornea
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationafwijkend
Interpretsreflex
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map2962
SNOMED CT to ICD-10 extended map
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified
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