| 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. |
| | Id | 1208987006 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 589905 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.0 | | Rule | TRUE | | Advice | ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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