1187249005: VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy (disorder)

SNOMED CT Concept\constatation clinique\...

\lésion neurologique\Leukodystrophy\VPS11-related autosomal recessive hypomyelinating leukodystrophy

\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\...

\Leukodystrophy\VPS11-related autosomal recessive hypomyelinating leukodystrophy

\Hereditary degenerative disease of central nervous system\VPS11-related autosomal recessive hypomyelinating leukodystrophy

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\VPS11-related autosomal recessive hypomyelinating leukodystrophy
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\VPS11-related autosomal recessive hypomyelinating leukodystrophy
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\VPS11-related autosomal recessive hypomyelinating leukodystrophy
\Disease\affection dégénérative\maladie dégénérative du système nerveux central\Leukodystrophy\VPS11-related autosomal recessive hypomyelinating leukodystrophy
\Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\VPS11-related autosomal recessive hypomyelinating leukodystrophy
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\VPS11-related autosomal recessive hypomyelinating leukodystrophy
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leukodystrophy\VPS11-related autosomal recessive hypomyelinating leukodystrophy
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\VPS11-related autosomal recessive hypomyelinating leukodystrophy
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Leukodystrophy\VPS11-related autosomal recessive hypomyelinating leukodystrophy
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\VPS11-related autosomal recessive hypomyelinating leukodystrophy
\Disease\trouble mental\troubles mentaux du développement\Intellectual disability\VPS11-related autosomal recessive hypomyelinating leukodystrophy
\Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\VPS11-related autosomal recessive hypomyelinating leukodystrophy
\Disease\trouble du développement\Developmental hereditary disorder\VPS11-related autosomal recessive hypomyelinating leukodystrophy
\Disease\trouble du développement\retard de développement\Global developmental delay\VPS11-related autosomal recessive hypomyelinating leukodystrophy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4672922017 VPS11-related autosomal recessive hypomyelinating leukodystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4672926019 VPS11-related autosomal recessive hypomyelinating leucodystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4672927011 VPS11-related autosomal recessive hypomyelinating leukoencephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4672928018 VPS11-related autosomal recessive hypomyelinating leucoencephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4673232012 VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

4673233019 VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leucodystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4673234013 VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4672929014 A rare genetic leukodystrophy identified in families of Ashkenazi Jewish descent, characterized by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity and acquired microcephaly. Seizures, hearing loss, visual impairment and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4672930016 A rare genetic leucodystrophy identified in families of Ashkenazi Jewish descent, characterised by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity and acquired microcephaly. Seizures, hearing loss, visual impairment and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
VPS11-related autosomal recessive hypomyelinating leukodystrophy	est un(e) (attribut)	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
VPS11-related autosomal recessive hypomyelinating leukodystrophy	est un(e) (attribut)	Intellectual disability	true	Inferred relationship	Some
VPS11-related autosomal recessive hypomyelinating leukodystrophy	est un(e) (attribut)	Leukodystrophy	true	Inferred relationship	Some
VPS11-related autosomal recessive hypomyelinating leukodystrophy	est un(e) (attribut)	Global developmental delay	true	Inferred relationship	Some
VPS11-related autosomal recessive hypomyelinating leukodystrophy	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
VPS11-related autosomal recessive hypomyelinating leukodystrophy	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
VPS11-related autosomal recessive hypomyelinating leukodystrophy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
VPS11-related autosomal recessive hypomyelinating leukodystrophy	localisation d'une constatation (attribut)	Myelinated nerve fiber structure	true	Inferred relationship	Some	1
VPS11-related autosomal recessive hypomyelinating leukodystrophy	morphologie associée (attribut)	Myelin sheath alteration	true	Inferred relationship	Some	1
VPS11-related autosomal recessive hypomyelinating leukodystrophy	localisation d'une constatation (attribut)	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	2
VPS11-related autosomal recessive hypomyelinating leukodystrophy	morphologie associée (attribut)	Dystrophy (morphologic abnormality)	true	Inferred relationship	Some	2

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
4672922017	VPS11-related autosomal recessive hypomyelinating leukodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4672926019	VPS11-related autosomal recessive hypomyelinating leucodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4672927011	VPS11-related autosomal recessive hypomyelinating leukoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4672928018	VPS11-related autosomal recessive hypomyelinating leucoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4673232012	VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4673233019	VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leucodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4673234013	VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4672929014	A rare genetic leukodystrophy identified in families of Ashkenazi Jewish descent, characterized by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity and acquired microcephaly. Seizures, hearing loss, visual impairment and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4672930016	A rare genetic leucodystrophy identified in families of Ashkenazi Jewish descent, characterised by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity and acquired microcephaly. Seizures, hearing loss, visual impairment and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core