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1144426002: Diffuse atrophy of cerebellum (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4542679015 Diffuse atrophy of cerebellum (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4542680017 Diffuse atrophy of cerebellum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4542681018 Diffuse atrophy of cerebellar structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Diffuse atrophy of cerebellum (disorder) Is a Cerebellar degeneration true Inferred relationship Some
Diffuse atrophy of cerebellum (disorder) Finding site Cerebellar structure true Inferred relationship Some 1
Diffuse atrophy of cerebellum (disorder) Associated morphology Diffuse atrophy true Inferred relationship Some 1
Diffuse atrophy of cerebellum (disorder) Is a Global brain atrophy (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
A rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated. Is a True Diffuse atrophy of cerebellum (disorder) Inferred relationship Some

This concept is not in any reference sets

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