| syndroom van multipele congenitale afwijkingen, neurologische ontwikkelingsachterstand en oculaire afwijkingen (aandoening) | | syndroom van multipele aangeboren afwijkingen, neurologische ontwikkelingsachterstand en oogafwijkingen | | syndroom van multipele congenitale misvormingen, neurologische ontwikkelingsachterstand en oogafwijkingen
PRR12-gerelateerd neuro-oculair syndroom
| | Multiple congenital anomalies, neurodevelopmental delay, ocular abnormalities syndrome | | PRR12 gene related neuro-ocular syndrome
| | A rare multiple congenital anomalies/dysmorphic syndrome characterized by neurodevelopmental delay, intellectual disability, variable structural eye defects including anophthalmia, microphthalmia, coloboma, optic nerve and iris abnormalities. Hypotonia and heart defects are present in the majority of patients. Additional variable clinical features may include growth failure, skeletal abnormalities, kidney anomalies, sleeping problems and behavioral disturbances such as autism and anxiety. |
| | Id | 1388880007 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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