782679002: Familial congenital palsy of trochlear nerve (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Peripheral nerve finding\Peripheral neuropathy\Trochlear nerve palsy\Congenital trochlear nerve palsy\Familial congenital palsy of trochlear nerve
• \General finding of soft tissue\Disorder of soft tissue\Peripheral neuropathy\Trochlear nerve palsy\Congenital trochlear nerve palsy\Familial congenital palsy of trochlear nerve
• \Finding of head and neck region\Trochlear nerve palsy\Congenital trochlear nerve palsy\Familial congenital palsy of trochlear nerve
• \Eye / vision finding\Visual system disorder\...
• \Disorder of oculomotor system\Trochlear nerve palsy\Congenital trochlear nerve palsy\Familial congenital palsy of trochlear nerve
• \Hereditary disorder of the visual system\Familial congenital palsy of trochlear nerve
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Familial congenital palsy of trochlear nerve
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Familial congenital palsy of trochlear nerve
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial congenital palsy of trochlear nerve
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Familial congenital palsy of trochlear nerve
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Familial congenital palsy of trochlear nerve
• \Disease\Disorder of body system\Visual system disorder\Disorder of oculomotor system\Trochlear nerve palsy\Congenital trochlear nerve palsy\Familial congenital palsy of trochlear nerve
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Familial congenital palsy of trochlear nerve
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Peripheral neuropathy\Trochlear nerve palsy\Congenital trochlear nerve palsy\Familial congenital palsy of trochlear nerve
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Trochlear nerve palsy\Congenital trochlear nerve palsy\Familial congenital palsy of trochlear nerve
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Familial congenital palsy of trochlear nerve
• \Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral neuropathy\Trochlear nerve palsy\Congenital trochlear nerve palsy\Familial congenital palsy of trochlear nerve
• \Disease\Familial disease\Familial congenital palsy of trochlear nerve
• \Disease\Congenital disease\Congenital trochlear nerve palsy\Familial congenital palsy of trochlear nerve
• \Disease\Disorder of soft tissue\Peripheral neuropathy\Trochlear nerve palsy\Congenital trochlear nerve palsy\Familial congenital palsy of trochlear nerve

Status: current, Defined. 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	Case insensitive	SNOMED CT core
3755127011	Familial congenital palsy of trochlear nerve	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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