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syndroom van gedragsproblemen, verstandelijke beperking, obesitas en dysmorfe kenmerken gerelateerd aan 'pleckstrin homology domain interacting'-eiwit (aandoening)
syndroom van gedragsproblemen, verstandelijke beperking, obesitas en dysmorfe kenmerken gerelateerd aan 'pleckstrin homology domain interacting'-eiwit
BIDOD-syndroom
syndroom van Chung-Jansen
PHIP-syndroom
PHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome
Chung Jansen syndrome
Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of variable developmental delay and intellectual disability, overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities.
Id1208987006
StatusPrimitive
Has interpretationgestoord
InterpretsAdaptation behavior
Has interpretationgestoord
Interpretsintellectueel vermogen
SNOMED CT to Orphanet simple map589905
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