768473009: Purine rich element binding protein A syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Purine rich element binding protein A syndrome
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Purine rich element binding protein A syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Purine rich element binding protein A syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Purine rich element binding protein A syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Seizure\Seizure disorder\Purine rich element binding protein A syndrome
• \Finding of brain\Encephalopathy\Seizure disorder\Purine rich element binding protein A syndrome
• \Disorder of head\Encephalopathy\Seizure disorder\Purine rich element binding protein A syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Purine rich element binding protein A syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Purine rich element binding protein A syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Purine rich element binding protein A syndrome
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Purine rich element binding protein A syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Purine rich element binding protein A syndrome
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Purine rich element binding protein A syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Purine rich element binding protein A syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3685731017	Purine rich element binding protein A syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3685732012	PURA-related neurodevelopmental disorder	en	Synonym	Active	Case sensitive	SNOMED CT core
3685733019	PURA (purine rich element binding protein A) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3685734013	Purine rich element binding protein A syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3685735014	PURA syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3685736010	PURA-related severe neonatal hypotonia, seizure, encephalopathy syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3685737018	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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