FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

253172000: Agenesis of cerebellum (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
377064018 Agenesis of cerebellum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
377065017 Congenital absence of cerebellum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
377066016 Total agenesis of cerebellum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
643899016 Agenesis of cerebellum (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5069331000241119 agénésie du cervelet fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3433561001000115 Isolierte zerebelläre Agenesie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Agenesis of cerebellum Is a Dysgenesis of the cerebellum false Inferred relationship Some
Agenesis of cerebellum Finding site Cerebellar structure false Inferred relationship Some 1
Agenesis of cerebellum Occurrence Congenital false Inferred relationship Some
Agenesis of cerebellum Associated morphology anomalie congénitale false Inferred relationship Some 1
Agenesis of cerebellum Associated morphology Congenital absence false Inferred relationship Some 1
Agenesis of cerebellum Is a aplasie cérébelleuse false Inferred relationship Some
Agenesis of cerebellum Is a Congenital malformation false Inferred relationship Some
Agenesis of cerebellum Is a Congenital absence of the spinal cord and brain false Inferred relationship Some
Agenesis of cerebellum Is a Aplasia of cerebellum true Inferred relationship Some
Agenesis of cerebellum Finding site Cerebellar structure false Inferred relationship Some 1
Agenesis of cerebellum Associated morphology Congenital absence false Inferred relationship Some 1
Agenesis of cerebellum Occurrence Congenital true Inferred relationship Some 1
Agenesis of cerebellum Associated morphology Congenital absence false Inferred relationship Some 1
Agenesis of cerebellum Finding site Cerebellar structure false Inferred relationship Some 2
Agenesis of cerebellum Is a Congenital absence of part of brain false Inferred relationship Some
Agenesis of cerebellum Finding site Entire cerebellum true Inferred relationship Some 1
Agenesis of cerebellum Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Agenesis of cerebellum Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Unilateral agenesis of cerebellum Is a False Agenesis of cerebellum Inferred relationship Some
Hemispheric cerebellar agenesis Is a False Agenesis of cerebellum Inferred relationship Some
Anomalies of cerebellum Is a False Agenesis of cerebellum Inferred relationship Some
Aplasia of cerebellum Is a False Agenesis of cerebellum Inferred relationship Some
Anomaly of cerebellum NOS Is a False Agenesis of cerebellum Inferred relationship Some
Absence of the vermis Is a False Agenesis of cerebellum Inferred relationship Some
Unilateral agenesis of cerebellum Associated finding False Agenesis of cerebellum Inferred relationship Some 1
Unilateral agenesis of cerebellum Associated finding False Agenesis of cerebellum Inferred relationship Some 1
A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth. The condition is fatal in the neonatal period. There have been no further descriptions in the literature since 1978. Is a True Agenesis of cerebellum Inferred relationship Some
A rare neurologic disease characterised by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. Absence or hypoplasia of the cerebellum and severe intra-uterine growth retardation can be detected prenatally. Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. The disease is lethal in the neonatal period. Is a True Agenesis of cerebellum Inferred relationship Some

This concept is not in any reference sets

Back to Start