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\Familial congenital palsy of trochlear nerve (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Fourth nerve palsy\Familial congenital palsy of trochlear nerve (disorder)
• \Finding of head and neck region\Fourth nerve palsy\Familial congenital palsy of trochlear nerve (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of oculomotor system (disorder)\Fourth nerve palsy\Familial congenital palsy of trochlear nerve (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of oculomotor system (disorder)\Fourth nerve palsy\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\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\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\Familial congenital palsy of trochlear nerve (disorder)
• \Disease\Familial disease\Familial congenital palsy of trochlear nerve (disorder)
• \Disease\Congenital disease (disorder)\Familial congenital palsy of trochlear nerve (disorder)
• \Disease\Disorder of soft tissue\Peripheral nerve disease\Fourth nerve palsy\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
4346481000052115	familjär medfödd pares i nervus trochlearis	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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