| syndroom van verstandelijke beperking, epileptische aanvallen, afwijkende gang en faciale dysmorfie (aandoening) | | syndroom van verstandelijke beperking, epileptische aanvallen, afwijkende gang en faciale dysmorfie | | Skraban-Deardorff-syndroom
syndroom van verstandelijke handicap, insulten, afwijkend looppatroon en faciale dysmorfie
syndroom van Skraban-Deardorff
syndroom van mentale retardatie, convulsies, afwijkende gang en faciale dysmorfie
| | Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome | | Skraban Deardorff syndrome
| | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability, seizures, abnormal gait and craniofacial dysmorphism (including coarse features, depressed nasal bridge, anteverted nares, broad nasal tip, prominent maxilla and upper lip, wide mouth, abnormal gingiva and widely spaced teeth). Additional reported manifestations are ocular anomalies, cardiac defects, gastrointestinal problems and autistic features. Brain imaging may show thin corpus callosum, white matter abnormalities, or dilated ventricles. |
| | Id | 1177167002 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 513456 |
| 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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