782679002: Familial congenital palsy of trochlear nerve (disorder)

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

\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Fourth nerve palsy\Congenital palsy of trochlear nerve (disorder)\Familial congenital palsy of trochlear nerve (disorder)
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Fourth nerve palsy\Congenital palsy of trochlear nerve (disorder)\Familial congenital palsy of trochlear nerve (disorder)

\Finding of head and neck region\Fourth nerve palsy\Congenital palsy of trochlear nerve (disorder)\Familial congenital palsy of trochlear nerve (disorder)

\Eye / vision finding\Visual system disorder\...

\Disorder of oculomotor system (disorder)\Fourth nerve palsy\Congenital palsy of trochlear nerve (disorder)\Familial congenital palsy of trochlear nerve (disorder)

\Hereditary disorder of the visual system (disorder)\Familial congenital palsy of trochlear nerve (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Familial congenital palsy of trochlear nerve (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Familial congenital palsy of trochlear nerve (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial congenital palsy of trochlear nerve (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Familial congenital palsy of trochlear nerve (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Familial congenital palsy of trochlear nerve (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of oculomotor system (disorder)\Fourth nerve palsy\Congenital palsy of trochlear nerve (disorder)\Familial congenital palsy of trochlear nerve (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Familial congenital palsy of trochlear nerve (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Fourth nerve palsy\Congenital palsy of trochlear nerve (disorder)\Familial congenital palsy of trochlear nerve (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Fourth nerve palsy\Congenital palsy of trochlear nerve (disorder)\Familial congenital palsy of trochlear nerve (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Familial congenital palsy of trochlear nerve (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Fourth nerve palsy\Congenital palsy of trochlear nerve (disorder)\Familial congenital palsy of trochlear nerve (disorder)
\Disease\Familial disease\Familial congenital palsy of trochlear nerve (disorder)
\Disease\Congenital disease (disorder)\Congenital palsy of trochlear nerve (disorder)\Familial congenital palsy of trochlear nerve (disorder)
\Disease\Disorder of soft tissue\Peripheral nerve disease\Fourth nerve palsy\Congenital palsy of trochlear nerve (disorder)\Familial congenital palsy of trochlear nerve (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3755126019 Familial congenital palsy of trochlear nerve (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3755127011 Familial congenital palsy of trochlear nerve en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3755128018 A rare genetic neuro-ophthalmological disease with characteristics of congenital fourth cranial nerve palsy, manifesting with hypertropia in side gaze, unexplained head tilt, acquired vertical diplopia and progressive increase in vertical fusional vergence amplitudes with prolonged occlusion. Facial asymmetry (for example hemifacial retrusion, upward slanting of mouth on the side of the head tilt, mild enophthalmos of paretic eye) and superior oblique tendon abnormalities (such as absence, redundance, misdirection) are frequently associated. Some asymptomatic cases have been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

12175651000172112 paralysie congénitale familiale du quatrième nerf crânien fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

12175661000172114 paralysie congénitale familiale du nerf crânien IV fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

12175671000172117 paralysie congénitale familiale du nerf trochléaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4563151000172110 familiaire congenitale verlamming van nervus trochlearis nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4563161000172112 familiaire congenitale verlamming van vierde hersenzenuw nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4563171000172115 familiaire aangeboren verlamming van hersenzenuw IV nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

14604931000172112 familiale congenitale verlamming van nervus trochlearis nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

14604941000172117 familiale aangeboren verlamming van hersenzenuw IV nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

14604951000172115 familiale congenitale verlamming van vierde hersenzenuw nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial congenital palsy of trochlear nerve (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Familial congenital palsy of trochlear nerve (disorder)	Is a	Fourth nerve palsy	false	Inferred relationship	Some
Familial congenital palsy of trochlear nerve (disorder)	Is a	Congenital disease (disorder)	false	Inferred relationship	Some
Familial congenital palsy of trochlear nerve (disorder)	Is a	Familial disease	true	Inferred relationship	Some
Familial congenital palsy of trochlear nerve (disorder)	Finding site	Trochlear nerve structure	true	Inferred relationship	Some	1
Familial congenital palsy of trochlear nerve (disorder)	Is a	Congenital palsy of trochlear nerve (disorder)	true	Inferred relationship	Some
Familial congenital palsy of trochlear nerve (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Familial congenital palsy of trochlear nerve (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Familial congenital palsy of trochlear nerve (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3755126019	Familial congenital palsy of trochlear nerve (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755127011	Familial congenital palsy of trochlear nerve	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755128018	A rare genetic neuro-ophthalmological disease with characteristics of congenital fourth cranial nerve palsy, manifesting with hypertropia in side gaze, unexplained head tilt, acquired vertical diplopia and progressive increase in vertical fusional vergence amplitudes with prolonged occlusion. Facial asymmetry (for example hemifacial retrusion, upward slanting of mouth on the side of the head tilt, mild enophthalmos of paretic eye) and superior oblique tendon abnormalities (such as absence, redundance, misdirection) are frequently associated. Some asymptomatic cases have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
12175651000172112	paralysie congénitale familiale du quatrième nerf crânien	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
12175661000172114	paralysie congénitale familiale du nerf crânien IV	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
12175671000172117	paralysie congénitale familiale du nerf trochléaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4563151000172110	familiaire congenitale verlamming van nervus trochlearis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4563161000172112	familiaire congenitale verlamming van vierde hersenzenuw	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4563171000172115	familiaire aangeboren verlamming van hersenzenuw IV	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
14604931000172112	familiale congenitale verlamming van nervus trochlearis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
14604941000172117	familiale aangeboren verlamming van hersenzenuw IV	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
14604951000172115	familiale congenitale verlamming van vierde hersenzenuw	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)