| 'purine rich element binding protein A'-syndroom (aandoening) | | 'purine rich element binding protein A'-syndroom | | PURA-syndroom
PURA-gerelateerd syndroom van ernstige neonatale hypotonie, insulten en encefalopathie
| | PURA syndrome | | Purine rich element binding protein A syndrome
PURA-related severe neonatal hypotonia, seizure, encephalopathy syndrome
PURA (purine rich element binding protein A) syndrome
PURA-related neurodevelopmental disorder
| | A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities. |
| | Id | 768473009 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 438213 |
| SNOMED CT to ICD-10 extended map | | Target | G40.4 | | Rule | TRUE | | Advice | ALWAYS G40.4 | 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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