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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
4964771017 A rare genetic neurological disorder with characteristics of 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 without pontine involvement. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4964772012 A rare genetic neurological disorder with characteristics of 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 grey matter without 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) est un(e) (attribut) Intellectual disability true Inferred relationship Some
Progressive cerebello-cerebral atrophy (disorder) est un(e) (attribut) Microcephaly (finding) true Inferred relationship Some
Progressive cerebello-cerebral atrophy (disorder) est un(e) (attribut) Chronic mental disorder true Inferred relationship Some
Progressive cerebello-cerebral atrophy (disorder) est un(e) (attribut) Global developmental delay true Inferred relationship Some
Progressive cerebello-cerebral atrophy (disorder) est un(e) (attribut) atrophie cérébrale true Inferred relationship Some
Progressive cerebello-cerebral atrophy (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Progressive cerebello-cerebral atrophy (disorder) est un(e) (attribut) Hereditary cerebellar degeneration true Inferred relationship Some
Progressive cerebello-cerebral atrophy (disorder) est un(e) (attribut) Chronic brain syndrome true Inferred relationship Some
Progressive cerebello-cerebral atrophy (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Progressive cerebello-cerebral atrophy (disorder) évolution clinique (attribut) progressif 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) interprète (attribut) Head circumference true Inferred relationship Some 3
Progressive cerebello-cerebral atrophy (disorder) a pour interprétation (attribut) au-dessous de l'étendue de référence true Inferred relationship Some 3
Progressive cerebello-cerebral atrophy (disorder) localisation d'une constatation (attribut) structure cérébelleuse true Inferred relationship Some 1
Progressive cerebello-cerebral atrophy (disorder) morphologie associée (attribut) atrophie (anomalie morphologique) true Inferred relationship Some 1
Progressive cerebello-cerebral atrophy (disorder) localisation d'une constatation (attribut) structure du cerveau true Inferred relationship Some 2
Progressive cerebello-cerebral atrophy (disorder) morphologie associée (attribut) atrophie (anomalie morphologique) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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