720518006: Athabaskan brainstem dysgenesis syndrome (disorder)

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

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

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

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Athabaskan brainstem dysgenesis syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Athabaskan brainstem dysgenesis syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Athabaskan brainstem dysgenesis syndrome (disorder)

\Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Athabaskan brainstem dysgenesis syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Athabaskan brainstem dysgenesis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Athabaskan brainstem dysgenesis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Athabaskan brainstem dysgenesis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Athabaskan brainstem dysgenesis syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Athabaskan brainstem dysgenesis syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Athabaskan brainstem dysgenesis syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Athabaskan brainstem dysgenesis syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Athabaskan brainstem dysgenesis syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Athabaskan brainstem dysgenesis syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Athabaskan brainstem dysgenesis syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Athabaskan brainstem dysgenesis syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Athabaskan brainstem dysgenesis syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Athabaskan brainstem dysgenesis syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Athabaskan brainstem dysgenesis syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Athabaskan brainstem dysgenesis syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Athabaskan brainstem dysgenesis syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Athabaskan brainstem dysgenesis syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Athabaskan brainstem dysgenesis syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Athabaskan brainstem dysgenesis syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Athabaskan brainstem dysgenesis syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Athabaskan brainstem dysgenesis syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3321108015 Athabaskan brainstem dysgenesis syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3321109011 Athabaskan brainstem dysgenesis syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3321110018 Athabascan brainstem dysgenesis syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3321111019 Navajo brainstem syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402387010 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402388017 A rare, genetic, neurological disorder characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Athabaskan brainstem dysgenesis syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Athabaskan brainstem dysgenesis syndrome (disorder)	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Athabaskan brainstem dysgenesis syndrome (disorder)	Is a	Dysgenesis of the brainstem	true	Inferred relationship	Some
Athabaskan brainstem dysgenesis syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Athabaskan brainstem dysgenesis syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Athabaskan brainstem dysgenesis syndrome (disorder)	Finding site	Ear structure	false	Inferred relationship	Some	2
Athabaskan brainstem dysgenesis syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Athabaskan brainstem dysgenesis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Athabaskan brainstem dysgenesis syndrome (disorder)	Finding site	Brainstem structure	false	Inferred relationship	Some	2
Athabaskan brainstem dysgenesis syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Athabaskan brainstem dysgenesis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Athabaskan brainstem dysgenesis syndrome (disorder)	Finding site	Brainstem structure	true	Inferred relationship	Some	1
Athabaskan brainstem dysgenesis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Athabaskan brainstem dysgenesis syndrome (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Athabaskan brainstem dysgenesis syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	3
Athabaskan brainstem dysgenesis syndrome (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	2
Athabaskan brainstem dysgenesis syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3321108015	Athabaskan brainstem dysgenesis syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321109011	Athabaskan brainstem dysgenesis syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321110018	Athabascan brainstem dysgenesis syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321111019	Navajo brainstem syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402387010	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402388017	A rare, genetic, neurological disorder characterised 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core