1222657001: Prune exopolyphosphatase 1-related neurological syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\PRUNE1-related neurological syndrome
• \Central nervous system finding\Disorder of the central nervous system\PRUNE1-related neurological syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\PRUNE1-related neurological syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\PRUNE1-related neurological syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\PRUNE1-related neurological syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\PRUNE1-related neurological syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\PRUNE1-related neurological syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\PRUNE1-related neurological syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\PRUNE1-related neurological syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\PRUNE1-related neurological syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\PRUNE1-related neurological syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\PRUNE1-related neurological syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\PRUNE1-related neurological syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\PRUNE1-related neurological syndrome

Status: current, Primitive. Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5048339010	Prune exopolyphosphatase 1-related neurological syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5048340012	PRUNE1-related neurological syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5048341011	Prune exopolyphosphatase 1-related neurological syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5048342016	A rare genetic syndromic intellectual disability with characteristics of infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency and optic atrophy among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination and thin corpus callosum.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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