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253180007: Dysgenesis of the brainstem (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
377076018 Dysgenesis of the brainstem en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
643908019 Dysgenesis of the brainstem (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5069451000241119 dysgénésie du tronc cérébral fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

37 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dysgenesis of the brainstem Is a Disorder of brain stem (disorder) true Inferred relationship Some
Dysgenesis of the brainstem Is a Congenital anomaly of head false Inferred relationship Some
Dysgenesis of the brainstem Is a Congenital anomaly of nervous system false Inferred relationship Some
Dysgenesis of the brainstem Occurrence Congenital false Inferred relationship Some
Dysgenesis of the brainstem Finding site Brainstem structure true Inferred relationship Some 1
Dysgenesis of the brainstem Is a Congenital anomaly of brain false Inferred relationship Some
Dysgenesis of the brainstem Associated morphology anomalie congénitale false Inferred relationship Some 1
Dysgenesis of the brainstem Finding site Brainstem structure false Inferred relationship Some 1
Dysgenesis of the brainstem Associated morphology anomalie congénitale false Inferred relationship Some 1
Dysgenesis of the brainstem Occurrence Congenital false Inferred relationship Some 2
Dysgenesis of the brainstem Associated morphology anomalie du développement false Inferred relationship Some 2
Dysgenesis of the brainstem Finding site Structure of nervous system (body structure) false Inferred relationship Some 2
Dysgenesis of the brainstem Is a Congenital anomaly of nervous system false Inferred relationship Some
Dysgenesis of the brainstem Is a Congenital anomaly of brain true Inferred relationship Some
Dysgenesis of the brainstem Is a Congenital anomaly of nervous system of head/neck false Inferred relationship Some
Dysgenesis of the brainstem Occurrence Congenital false Inferred relationship Some 3
Dysgenesis of the brainstem Associated morphology anomalie du développement false Inferred relationship Some 3
Dysgenesis of the brainstem Finding site Brainstem structure false Inferred relationship Some 3
Dysgenesis of the brainstem Occurrence Congenital true Inferred relationship Some 1
Dysgenesis of the brainstem Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Dysgenesis of the brainstem Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Olive dysplasia Is a True Dysgenesis of the brainstem Inferred relationship Some
Olivary heterotopia Is a True Dysgenesis of the brainstem Inferred relationship Some
Chiari malformation type III Is a True Dysgenesis of the brainstem Inferred relationship Some
Congenital pontocerebellar hypoplasia Is a False Dysgenesis of the brainstem Inferred relationship Some
Congenital agenesis of brainstem nuclei Is a True Dysgenesis of the brainstem Inferred relationship Some
A rare, genetic, neurological disorder characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and intellectual disability, described in persons of Athabascan American Indian heritage. Swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, internal carotid artery, and cardiac outflow tract anomalies may be additionally observed. No dysmorphic facial features are associated. Is a True Dysgenesis of the brainstem Inferred relationship Some
A rare, central nervous system malformation characterized by specific pattern of congenital anomalies affecting the pons, medulla, and cerebellum. Clinical manifestations of multiple cranial nerves deficits, pyramidal and cerebellar signs include neonatal hypotonia, ataxia, sensorineural deafness, reduced vision, language and speech disorders, feeding and swallowing difficulties, facial paralysis and intellectual disability. Various cardiac, gastrointestinal, genitourinary and skeletal defects have been sometimes reported. Is a True Dysgenesis of the brainstem Inferred relationship Some
Congenital nuclear ophthalmoplegia Is a True Dysgenesis of the brainstem Inferred relationship Some
Aqueduct of Sylvius anomaly Is a True Dysgenesis of the brainstem Inferred relationship Some
A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition. Is a True Dysgenesis of the brainstem Inferred relationship Some
A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by cortical malformations including posterior predominant lissencephaly and diffuse pachygyria, as well as midline crossing defects, thin corpus callosum, dysplastic hippocampi, narrowing of the brainstem with small pons and midbrain, widening of the medulla, and small cerebellum. Clinically, patients present global developmental delay, severe intellectual disability with poor or absent speech, axial hypotonia, and early-onset seizures, among others. Is a True Dysgenesis of the brainstem Inferred relationship Some
Congenital hypoplasia of brainstem Is a True Dysgenesis of the brainstem Inferred relationship Some
Congenital superior cerebellar dysplasia Is a True Dysgenesis of the brainstem Inferred relationship Some

Reference Sets

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