| syndroom van ontwikkelingsachterstand, gedragsproblemen, kleine handen en voeten, cyclisch braken en dysmorfe kenmerken (aandoening) | | syndroom van ontwikkelingsachterstand, gedragsproblemen, kleine handen en voeten, cyclisch braken en dysmorfe kenmerken | | Jansen-de Vries-syndroom
JDVS
syndroom van Jansen-de Vries
| | Jansen-de Vries syndrome | | Developmental delay, behavioral problems, small hands and feet, cyclic vomiting, dysmorphic features syndrome
JDVS - Jansen-de Vries syndrome
| | A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual disability and/or developmental delay, speech delay, behavioral problems (attention deficit-hyperactivity disorder, autism and anxiety disorders, outgoing hyper-social personality), periods of fever and cyclic vomiting. Most patients manifest additional clinical features, including gastrointestinal symptoms (poor feeding and constipation), facial dysmorphism (broad forehead, low-set posteriorly rotated ears, upturned nose and broad mouth with thin upper lip), small hands and feet often with brachydactyly, short stature, high pain threshold and/or hypersensitivity to sound, hypotonia and broad-based gait. |
| | Id | 1351655009 | | Status | Primitive |
| 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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