1208481000: Progressive cerebello-cerebral atrophy (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Progressive cerebello-cerebral atrophy

\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Progressive cerebello-cerebral atrophy
\Central nervous system finding\Finding of brain\Encephalopathy\Chronic brain syndrome\Progressive cerebello-cerebral atrophy
\Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Progressive cerebello-cerebral atrophy
\Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Progressive cerebello-cerebral atrophy
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Progressive cerebello-cerebral atrophy
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Progressive cerebello-cerebral atrophy
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Progressive cerebello-cerebral atrophy
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Progressive cerebello-cerebral atrophy
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Progressive cerebello-cerebral atrophy
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Progressive cerebello-cerebral atrophy
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Progressive cerebello-cerebral atrophy

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

\Finding of head circumference\Microcephaly\Progressive cerebello-cerebral atrophy

\Finding of brain\Encephalopathy\...

\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Progressive cerebello-cerebral atrophy

\Chronic brain syndrome\Progressive cerebello-cerebral atrophy

\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Progressive cerebello-cerebral atrophy
\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Progressive cerebello-cerebral atrophy

\Disorder of head\Encephalopathy\...

\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Progressive cerebello-cerebral atrophy

\Chronic brain syndrome\Progressive cerebello-cerebral atrophy

\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Progressive cerebello-cerebral atrophy
\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Progressive cerebello-cerebral atrophy

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Progressive cerebello-cerebral atrophy
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Progressive cerebello-cerebral atrophy
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Progressive cerebello-cerebral atrophy

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Progressive cerebello-cerebral atrophy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Progressive cerebello-cerebral atrophy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Progressive cerebello-cerebral atrophy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Progressive cerebello-cerebral atrophy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Progressive cerebello-cerebral atrophy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Progressive cerebello-cerebral atrophy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Progressive cerebello-cerebral atrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Progressive cerebello-cerebral atrophy
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Progressive cerebello-cerebral atrophy
\Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic brain syndrome\Progressive cerebello-cerebral atrophy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Progressive cerebello-cerebral atrophy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Progressive cerebello-cerebral atrophy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Progressive cerebello-cerebral atrophy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Progressive cerebello-cerebral atrophy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Progressive cerebello-cerebral atrophy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Progressive cerebello-cerebral atrophy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Progressive cerebello-cerebral atrophy
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Progressive cerebello-cerebral atrophy
\Disease\Disorder of head\Encephalopathy\Chronic brain syndrome\Progressive cerebello-cerebral atrophy
\Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Progressive cerebello-cerebral atrophy
\Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Progressive cerebello-cerebral atrophy
\Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\Progressive cerebello-cerebral atrophy
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Progressive cerebello-cerebral atrophy
\Disease\Developmental disorder\Developmental hereditary disorder\Progressive cerebello-cerebral atrophy
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Progressive cerebello-cerebral atrophy

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

Descriptions:

Id Description Lang Type Status Case? Module

4964768013 Progressive cerebello-cerebral atrophy (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4964769017 Progressive cerebello-cerebral atrophy en Synonym Active Case insensitive SNOMED CT core

4964770016 PCCA - progressive cerebello-cerebral atrophy en Synonym Active Case sensitive SNOMED CT core

5155241015 A rare genetic neurological disorder with characteristics of postnatal onset of severe global developmental delay, profound intellectual disability, progressive microcephaly, progressive spasticity evolving into spastic quadriplegia with joint contractures, generalized seizures and irritability. Severe choreoathetosis and dysmorphic features are absent. Brain imaging shows progressive cerebellar atrophy followed by cerebral atrophy affecting both white and gray matter without pontine involvement. en Definition Active Case sensitive SNOMED CT core

5155242010 A rare genetic neurological disorder with characteristics of postnatal onset of severe global developmental delay, profound intellectual disability, progressive microcephaly, progressive spasticity evolving into spastic quadriplegia with joint contractures, generalised seizures and irritability. Severe choreoathetosis and dysmorphic features are absent. Brain imaging shows progressive cerebellar atrophy followed by cerebral atrophy affecting both white and grey matter without pontine involvement. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Progressive cerebello-cerebral atrophy	Is a	Intellectual disability	true	Inferred relationship	Some
Progressive cerebello-cerebral atrophy	Is a	Microcephaly	true	Inferred relationship	Some
Progressive cerebello-cerebral atrophy	Is a	Chronic mental disorder	false	Inferred relationship	Some
Progressive cerebello-cerebral atrophy	Is a	Global developmental delay	true	Inferred relationship	Some
Progressive cerebello-cerebral atrophy	Is a	Cerebral atrophy	true	Inferred relationship	Some
Progressive cerebello-cerebral atrophy	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Progressive cerebello-cerebral atrophy	Is a	Hereditary cerebellar degeneration	true	Inferred relationship	Some
Progressive cerebello-cerebral atrophy	Is a	Chronic brain syndrome	true	Inferred relationship	Some
Progressive cerebello-cerebral atrophy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Progressive cerebello-cerebral atrophy	Clinical course	Progressive	true	Inferred relationship	Some	4
Progressive cerebello-cerebral atrophy	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
Progressive cerebello-cerebral atrophy	Interprets	Head circumference	true	Inferred relationship	Some	3
Progressive cerebello-cerebral atrophy	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Progressive cerebello-cerebral atrophy	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
Progressive cerebello-cerebral atrophy	Associated morphology	Atrophy	true	Inferred relationship	Some	1
Progressive cerebello-cerebral atrophy	Finding site	Structure of cerebrum	true	Inferred relationship	Some	2
Progressive cerebello-cerebral atrophy	Associated morphology	Atrophy	true	Inferred relationship	Some	2
Progressive cerebello-cerebral atrophy	Interprets	Adaptation behaviour	true	Inferred relationship	Some	6
Progressive cerebello-cerebral atrophy	Has interpretation	Impaired	true	Inferred relationship	Some	6
Progressive cerebello-cerebral atrophy	Interprets	Intellectual ability	true	Inferred relationship	Some	7
Progressive cerebello-cerebral atrophy	Has interpretation	Impaired	true	Inferred relationship	Some	7

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
4964768013	Progressive cerebello-cerebral atrophy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4964769017	Progressive cerebello-cerebral atrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
4964770016	PCCA - progressive cerebello-cerebral atrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
5155241015	A rare genetic neurological disorder with characteristics of postnatal onset of severe global developmental delay, profound intellectual disability, progressive microcephaly, progressive spasticity evolving into spastic quadriplegia with joint contractures, generalized seizures and irritability. Severe choreoathetosis and dysmorphic features are absent. Brain imaging shows progressive cerebellar atrophy followed by cerebral atrophy affecting both white and gray matter without pontine involvement.	en	Definition	Active	Case sensitive	SNOMED CT core
5155242010	A rare genetic neurological disorder with characteristics of postnatal onset of severe global developmental delay, profound intellectual disability, progressive microcephaly, progressive spasticity evolving into spastic quadriplegia with joint contractures, generalised seizures and irritability. Severe choreoathetosis and dysmorphic features are absent. Brain imaging shows progressive cerebellar atrophy followed by cerebral atrophy affecting both white and grey matter without pontine involvement.	en	Definition	Active	Case sensitive	SNOMED CT core