||||
Gabriele-de Vries-syndroom (aandoening)
Gabriele-de Vries-syndroom
syndroom van Gabriele-de Vries
syndroom door haplo-insufficiƫntie van Yin-Yang1
syndroom door haplo-insufficiƫntie van YY1
Gabriele-de Vries syndrome
YY1 haploinsufficiency syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, movement disorder or gait abnormalities and dysmorphic craniofacial features (such as facial asymmetry, broad forehead, posteriorly rotated ears, thick lower lip, micrognathia, or cleft palate). A variety of congenital malformations have been reported in addition, including ocular, renal, cardiac and joint anomalies, among others. Some patients show behavioral alterations (autism, hyperactivity, or anxiety).
Id1186730002
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
SNOMED CT to Orphanet simple map506358
SNOMED CT to ICD-10 extended map
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified