| 'purine rich element binding protein A'-syndroom (aandoening) | | 'purine rich element binding protein A'-syndroom | | 5q31.3-microdeletiesyndroom
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
| | Syndrome with manifestations of intellectual disability and delayed development of speech and motor skills with expressive language skills generally more severely affected. Individuals may be unable to speak, learn to walk later or may never walk. In infancy hypotonia and feeding difficulties may be present along with dysphagia, hypersomnolence, hypothermia and hypoventilation. Recurrent seizures are common. Caused by mutations in the PURA gene, which provides instructions for the protein Pur-alpha. This protein has multiple roles in cells, including gene transcription and replication of DNA. The disease is inherited in an autosomal dominant pattern, however most cases result from de novo mutation. |
| | 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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