253180007: Dysgenesis of the brainstem (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain\Disorder of brain stem (disorder)\Dysgenesis of the brainstem
\Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the brainstem
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of brain stem (disorder)\Dysgenesis of the brainstem
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the brainstem

\Central nervous system finding\Finding of brain\Disorder of brain\Disorder of brain stem (disorder)\Dysgenesis of the brainstem
\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the brainstem
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of brain stem (disorder)\Dysgenesis of the brainstem
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the brainstem

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem
\Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of brain stem (disorder)\Dysgenesis of the brainstem
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the brainstem
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem
\Disease\Disorder of head (disorder)\Disorder of brain\Disorder of brain stem (disorder)\Dysgenesis of the brainstem
\Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the brainstem
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem

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

Descriptions:

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	Existential restriction modifier (core metadata concept)
Dysgenesis of the brainstem	Is a	Congenital anomaly of head	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysgenesis of the brainstem	Is a	Congenital anomaly of nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysgenesis of the brainstem	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysgenesis of the brainstem	Finding site	Brainstem structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysgenesis of the brainstem	Is a	Congenital anomaly of brain	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysgenesis of the brainstem	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysgenesis of the brainstem	Finding site	Brainstem structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysgenesis of the brainstem	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysgenesis of the brainstem	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysgenesis of the brainstem	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysgenesis of the brainstem	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysgenesis of the brainstem	Is a	Congenital anomaly of nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysgenesis of the brainstem	Is a	Congenital anomaly of brain	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysgenesis of the brainstem	Is a	Congenital anomaly of nervous system of head/neck	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysgenesis of the brainstem	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Dysgenesis of the brainstem	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Dysgenesis of the brainstem	Finding site	Brainstem structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Dysgenesis of the brainstem	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysgenesis of the brainstem	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysgenesis of the brainstem	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Olive dysplasia (disorder)	Is a	True	Dysgenesis of the brainstem	Inferred relationship	Existential restriction modifier (core metadata concept)
Olivary heterotopia	Is a	True	Dysgenesis of the brainstem	Inferred relationship	Existential restriction modifier (core metadata concept)
Chiari malformation type III	Is a	True	Dysgenesis of the brainstem	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia	Is a	True	Dysgenesis of the brainstem	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital agenesis of brainstem nuclei	Is a	True	Dysgenesis of the brainstem	Inferred relationship	Existential restriction modifier (core metadata concept)
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	Existential restriction modifier (core metadata concept)
A rare central nervous system malformation with characteristics of a 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 reported.	Is a	True	Dysgenesis of the brainstem	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital nuclear ophthalmoplegia	Is a	True	Dysgenesis of the brainstem	Inferred relationship	Existential restriction modifier (core metadata concept)
Aqueduct of Sylvius anomaly	Is a	True	Dysgenesis of the brainstem	Inferred relationship	Existential restriction modifier (core metadata concept)
Aprosencephaly cerebellar dysgenesis	Is a	True	Dysgenesis of the brainstem	Inferred relationship	Existential restriction modifier (core metadata concept)
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Is a	True	Dysgenesis of the brainstem	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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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
377076018	Dysgenesis of the brainstem	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
5069451000241119	dysgénésie du tronc cérébral	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module