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

SNOMED CT Concept\Clinical finding (finding)\...

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Prune exopolyphosphatase 1-related neurological syndrome (disorder)

\Central nervous system finding\Disorder of the central nervous system (disorder)\Prune exopolyphosphatase 1-related neurological syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Prune exopolyphosphatase 1-related neurological syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Prune exopolyphosphatase 1-related neurological syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Prune exopolyphosphatase 1-related neurological syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Prune exopolyphosphatase 1-related neurological syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Prune exopolyphosphatase 1-related neurological syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Prune exopolyphosphatase 1-related neurological syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Prune exopolyphosphatase 1-related neurological syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Prune exopolyphosphatase 1-related neurological syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Prune exopolyphosphatase 1-related neurological syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Prune exopolyphosphatase 1-related neurological syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Prune exopolyphosphatase 1-related neurological syndrome (disorder)
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Prune exopolyphosphatase 1-related neurological syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

5048340012 PRUNE1-related neurological syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5048341011 Prune exopolyphosphatase 1-related neurological syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

13647161000172119 prune exopolyphosphatase-1-gerelateerd neurologisch syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13647171000172111 PRUNE1-gerelateerd neurologisch syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Prune exopolyphosphatase 1-related neurological syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Prune exopolyphosphatase 1-related neurological syndrome (disorder)	Is a	Global developmental delay	true	Inferred relationship	Some
Prune exopolyphosphatase 1-related neurological syndrome (disorder)	Is a	Disorder of the central nervous system (disorder)	true	Inferred relationship	Some
Prune exopolyphosphatase 1-related neurological syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Prune exopolyphosphatase 1-related neurological syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Prune exopolyphosphatase 1-related neurological syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Prune exopolyphosphatase 1-related neurological syndrome (disorder)	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	1
Prune exopolyphosphatase 1-related neurological syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Prune exopolyphosphatase 1-related neurological syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Prune exopolyphosphatase 1-related neurological syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Prune exopolyphosphatase 1-related neurological syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
Prune exopolyphosphatase 1-related neurological syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5048339010	Prune exopolyphosphatase 1-related neurological syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048340012	PRUNE1-related neurological syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5048341011	Prune exopolyphosphatase 1-related neurological syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
13647161000172119	prune exopolyphosphatase-1-gerelateerd neurologisch syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13647171000172111	PRUNE1-gerelateerd neurologisch syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)