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1208481000: Progressive cerebello-cerebral atrophy (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
4964769017 Progressive cerebello-cerebral atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4964770016 PCCA - progressive cerebello-cerebral atrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399828011 A rare genetic neurological disorder characterized by postnatal onset of severe global developmental delay, profound mental retardation, 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, but no pontine involvement. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399829015 A rare genetic neurological disorder characterised by postnatal onset of severe global developmental delay, profound mental retardation, 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, but no pontine involvement. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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