FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

1231746006: Isolated agenesis of cerebellar vermis (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
5074098011 Isolated cerebellar vermis agenesis en Synonym Active Case insensitive SNOMED CT core
5074099015 Isolated agenesis of cerebellar vermis (disorder) en Fully specified name Active Case insensitive SNOMED CT core
5074100011 Isolated agenesis of cerebellar vermis en Synonym Active Case insensitive SNOMED CT core
5074105018 A rare congenital cerebellar malformation disorder with characteristics of complete or partial cerebellar vermis agenesis with no other associated malformations or anomalies. Patients may be asymptomatic although psychomotor delay, hypotonia and incoordination are usually associated. Additional variable manifestations include intellectual disability, oculomotor abnormalities (such as nystagmus, impaired smooth pursuit, impaired saccades, strabismus, ptosis and oculomotor apraxia), retinopathy, abnormal visual evoked potentials, ataxia and delayed gait acquisition, along with delayed speech and language development. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Isolated agenesis of cerebellar vermis Is a Aplasia of the vermis true Inferred relationship Some
Isolated agenesis of cerebellar vermis Occurrence Congenital true Inferred relationship Some 1
Isolated agenesis of cerebellar vermis Finding site Cerebellar vermis structure true Inferred relationship Some 1
Isolated agenesis of cerebellar vermis Associated morphology Agenesis true Inferred relationship Some 1
Isolated agenesis of cerebellar vermis Pathological process Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start