230530003: Congenital nuclear ophthalmoplegia (disorder)

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

\Finding of movement (finding)\Movement disorder\Paralytic syndrome\Ophthalmoplegia\Congenital nuclear ophthalmoplegia
\Finding of movement (finding)\Motor dysfunction\Paralysis\Paralytic syndrome\Ophthalmoplegia\Congenital nuclear ophthalmoplegia

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

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Disorder of brain (disorder)\...

\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital nuclear ophthalmoplegia
\Disorder of brain stem (disorder)\Disorder of midbrain (disorder)\Congenital nuclear ophthalmoplegia

\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital nuclear ophthalmoplegia

\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital nuclear ophthalmoplegia
\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital nuclear ophthalmoplegia
\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Disorder of midbrain (disorder)\Congenital nuclear ophthalmoplegia
\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital nuclear ophthalmoplegia

\Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Eye / vision finding\Visual system disorder\Disorder of eye movements\Neurologic disorder of eye movements\Ophthalmoplegia\Congenital nuclear ophthalmoplegia

\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\Ophthalmoplegia\Congenital nuclear ophthalmoplegia

\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Neurologic disorder of eye movements\Ophthalmoplegia\Congenital nuclear ophthalmoplegia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neurologic disorder of eye movements\Ophthalmoplegia\Congenital nuclear ophthalmoplegia
\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\Congenital nuclear ophthalmoplegia
\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\Congenital nuclear ophthalmoplegia
\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\Congenital nuclear ophthalmoplegia
\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)\Disorder of midbrain (disorder)\Congenital nuclear ophthalmoplegia
\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\Congenital nuclear ophthalmoplegia
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital nuclear ophthalmoplegia
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital nuclear ophthalmoplegia
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Disorder of midbrain (disorder)\Congenital nuclear ophthalmoplegia
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital nuclear ophthalmoplegia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital nuclear ophthalmoplegia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital nuclear ophthalmoplegia
\Disease\Movement disorder\Paralytic syndrome\Ophthalmoplegia\Congenital nuclear ophthalmoplegia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital nuclear ophthalmoplegia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital nuclear ophthalmoplegia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital nuclear ophthalmoplegia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

345436010 Congenital nuclear ophthalmoplegia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

618350017 Congenital nuclear ophthalmoplegia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital nuclear ophthalmoplegia	Is a	Congenital disorders of eye and eyelid movements	false	Inferred relationship	Some
Congenital nuclear ophthalmoplegia	Is a	Ophthalmoplegia	true	Inferred relationship	Some
Congenital nuclear ophthalmoplegia	Is a	Disorder of brain stem (disorder)	false	Inferred relationship	Some
Congenital nuclear ophthalmoplegia	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital nuclear ophthalmoplegia	Occurrence	Congenital	false	Inferred relationship	Some
Congenital nuclear ophthalmoplegia	Finding site	Brainstem structure	false	Inferred relationship	Some
Congenital nuclear ophthalmoplegia	Finding site	Eye structure	false	Inferred relationship	Some	1
Congenital nuclear ophthalmoplegia	Finding site	Orbital region structure	false	Inferred relationship	Some	1
Congenital nuclear ophthalmoplegia	Finding site	Eyelid structure	false	Inferred relationship	Some
Congenital nuclear ophthalmoplegia	Has interpretation	Abnormal	false	Inferred relationship	Some
Congenital nuclear ophthalmoplegia	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital nuclear ophthalmoplegia	Interprets	Ocular motility observable	false	Inferred relationship	Some
Congenital nuclear ophthalmoplegia	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital nuclear ophthalmoplegia	Finding site	Eye structure	false	Inferred relationship	Some	1
Congenital nuclear ophthalmoplegia	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital nuclear ophthalmoplegia	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Congenital nuclear ophthalmoplegia	Finding site	Eye structure	false	Inferred relationship	Some	2
Congenital nuclear ophthalmoplegia	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital nuclear ophthalmoplegia	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital nuclear ophthalmoplegia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital nuclear ophthalmoplegia	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital nuclear ophthalmoplegia	Finding site	Medial longitudinal fasciculus structure (body structure)	false	Inferred relationship	Some	2
Congenital nuclear ophthalmoplegia	Is a	Disorder of midbrain (disorder)	true	Inferred relationship	Some
Congenital nuclear ophthalmoplegia	Finding site	Eyelid structure	false	Inferred relationship	Some	3
Congenital nuclear ophthalmoplegia	Finding site	Medial longitudinal fasciculus structure (body structure)	true	Inferred relationship	Some	1
Congenital nuclear ophthalmoplegia	Finding site	Eyelid structure	true	Inferred relationship	Some	2
Congenital nuclear ophthalmoplegia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Congenital nuclear ophthalmoplegia	Is a	Congenital anomaly of eyelid	true	Inferred relationship	Some
Congenital nuclear ophthalmoplegia	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Congenital nuclear ophthalmoplegia	Is a	Dysgenesis of the brainstem	true	Inferred relationship	Some
Congenital nuclear ophthalmoplegia	Interprets	Movement	true	Inferred relationship	Some	4
Congenital nuclear ophthalmoplegia	Interprets	Movement observable	true	Inferred relationship	Some	3
Congenital nuclear ophthalmoplegia	Has interpretation	Absent	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder)	Is a	True	Congenital nuclear ophthalmoplegia	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
345436010	Congenital nuclear ophthalmoplegia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
618350017	Congenital nuclear ophthalmoplegia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core