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1144387007: Atrophy of cerebellar vermis (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
4541823017 Atrophy of cerebellar vermis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4541824011 Atrophy of cerebellar vermis (disorder) en Fully specified name 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
Atrophy of cerebellar vermis Is a Cerebellar degeneration true Inferred relationship Some
Atrophy of cerebellar vermis Finding site Cerebellar vermis structure true Inferred relationship Some 1
Atrophy of cerebellar vermis Associated morphology Atrophy true Inferred relationship Some 1

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 Atrophy of cerebellar vermis Inferred relationship Some

This concept is not in any reference sets

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