Developmental hereditary disorder
Hereditary cancer-predisposing syndrome
Multiple malformation syndrome, small stature, without skeletal dysplasia
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Rubinstein-Taybi syndrome (disorder)
Rubinstein-Taybi syndrome
Rubinstein-Taybi-syndroom
syndroom van Rubinstein-Taybi
syndroom van Rubinstein-Taybi
Syndroom met als kenmerken psychomotorische achterstand, karakteristieke gezichtskenmerken, brede duimen en brede grote tenen.
Id45582004
StatusPrimitive
Associated morphologyMorphologically abnormal structure
OccurrenceCongenital
Pathological processPathological developmental process
InterpretsHeight / growth measure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2
CorrelationSNOMED CT source code to target map code correlation not specified
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Port-wine stain in Rubinstein-Taybi syndrome