1217367007: Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Encephalopathy\Chronic brain syndrome\PLAA-associated neurodevelopmental disorder
\Central nervous system finding\Finding of brain\Encephalopathy\Leukoencephalopathy\PLAA-associated neurodevelopmental disorder
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\PLAA-associated neurodevelopmental disorder
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\PLAA-associated neurodevelopmental disorder
\Central nervous system finding\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\PLAA-associated neurodevelopmental disorder

\Finding of head and neck region\Head finding\...

\Finding of head circumference\Microcephaly\PLAA-associated neurodevelopmental disorder

\Finding of brain\Encephalopathy\...

\Chronic brain syndrome\PLAA-associated neurodevelopmental disorder

\Leukoencephalopathy\PLAA-associated neurodevelopmental disorder

\Finding of head region\Leukoencephalopathy\PLAA-associated neurodevelopmental disorder

\Disorder of head\Encephalopathy\...

\Chronic brain syndrome\PLAA-associated neurodevelopmental disorder

\Leukoencephalopathy\PLAA-associated neurodevelopmental disorder

\Eye / vision finding\Visual system disorder\...

\Hereditary disorder of the visual system\Inherited optic neuropathy\PLAA-associated neurodevelopmental disorder

\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\PLAA-associated neurodevelopmental disorder

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\PLAA-associated neurodevelopmental disorder

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\PLAA-associated neurodevelopmental disorder
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\PLAA-associated neurodevelopmental disorder
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\PLAA-associated neurodevelopmental disorder
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\PLAA-associated neurodevelopmental disorder
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\PLAA-associated neurodevelopmental disorder
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\PLAA-associated neurodevelopmental disorder
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\PLAA-associated neurodevelopmental disorder
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\PLAA-associated neurodevelopmental disorder
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Inherited optic neuropathy\PLAA-associated neurodevelopmental disorder
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited optic neuropathy\PLAA-associated neurodevelopmental disorder
\Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic brain syndrome\PLAA-associated neurodevelopmental disorder
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\PLAA-associated neurodevelopmental disorder
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\PLAA-associated neurodevelopmental disorder
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\PLAA-associated neurodevelopmental disorder
\Disease\Disorder of head\Encephalopathy\Chronic brain syndrome\PLAA-associated neurodevelopmental disorder
\Disease\Disorder of head\Encephalopathy\Leukoencephalopathy\PLAA-associated neurodevelopmental disorder
\Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\PLAA-associated neurodevelopmental disorder
\Disease\Developmental disorder\Neurodevelopmental disorder\PLAA-associated neurodevelopmental disorder
\Disease\Developmental disorder\Developmental hereditary disorder\PLAA-associated neurodevelopmental disorder
\Disease\Developmental disorder\Developmental delay\Global developmental delay\PLAA-associated neurodevelopmental disorder

Status: current, Primitive. Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5036008011 Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

5036012017 Phospholipase A2 activating protein-associated neurodevelopmental disorder en Synonym Active Initial character case insensitive SNOMED CT core

5036013010 PLAA-associated neurodevelopmental disorder en Synonym Active Case sensitive SNOMED CT core

5036014016 PLAAND - phospholipase A2 activating protein-associated neurodevelopmental disorder en Synonym Active Case sensitive SNOMED CT core

5036015015 A rare genetic neurological disorder characterised by infantile onset of progressive leucoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia and hypomimia or amimia, as well as progressive chest deformities and contractures of large joints and hyperextensibility of small joints among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leucoencephalopathy. en Definition Active Case sensitive SNOMED CT core

5036016019 A rare genetic neurological disorder characterized by infantile onset of progressive leukoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia and hypomimia or amimia, as well as progressive chest deformities and contractures of large joints and hyperextensibility of small joints among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leukoencephalopathy. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
PLAA-associated neurodevelopmental disorder	Is a	Microcephaly	true	Inferred relationship	Some
PLAA-associated neurodevelopmental disorder	Is a	Global developmental delay	true	Inferred relationship	Some
PLAA-associated neurodevelopmental disorder	Is a	Leukoencephalopathy	true	Inferred relationship	Some
PLAA-associated neurodevelopmental disorder	Is a	Inherited optic neuropathy	true	Inferred relationship	Some
PLAA-associated neurodevelopmental disorder	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
PLAA-associated neurodevelopmental disorder	Is a	Neurodevelopmental disorder	true	Inferred relationship	Some
PLAA-associated neurodevelopmental disorder	Is a	Chronic brain syndrome	true	Inferred relationship	Some
PLAA-associated neurodevelopmental disorder	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
PLAA-associated neurodevelopmental disorder	Clinical course	Progressive	true	Inferred relationship	Some	2
PLAA-associated neurodevelopmental disorder	Finding site	Optic nerve structure	true	Inferred relationship	Some	3
PLAA-associated neurodevelopmental disorder	Finding site	Cerebral white matter structure	true	Inferred relationship	Some	4
PLAA-associated neurodevelopmental disorder	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
PLAA-associated neurodevelopmental disorder	Interprets	Head circumference	true	Inferred relationship	Some	1
PLAA-associated neurodevelopmental disorder	Has interpretation	Below reference range	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5036008011	Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
5036012017	Phospholipase A2 activating protein-associated neurodevelopmental disorder	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5036013010	PLAA-associated neurodevelopmental disorder	en	Synonym	Active	Case sensitive	SNOMED CT core
5036014016	PLAAND - phospholipase A2 activating protein-associated neurodevelopmental disorder	en	Synonym	Active	Case sensitive	SNOMED CT core
5036015015	A rare genetic neurological disorder characterised by infantile onset of progressive leucoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia and hypomimia or amimia, as well as progressive chest deformities and contractures of large joints and hyperextensibility of small joints among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leucoencephalopathy.	en	Definition	Active	Case sensitive	SNOMED CT core
5036016019	A rare genetic neurological disorder characterized by infantile onset of progressive leukoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia and hypomimia or amimia, as well as progressive chest deformities and contractures of large joints and hyperextensibility of small joints among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leukoencephalopathy.	en	Definition	Active	Case sensitive	SNOMED CT core