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782679002: 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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial congenital palsy of trochlear nerve (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Familial congenital palsy of trochlear nerve (disorder) est un(e) (attribut) paralysie du nerf trochléaire false Inferred relationship Some
Familial congenital palsy of trochlear nerve (disorder) est un(e) (attribut) Congenital disease false Inferred relationship Some
Familial congenital palsy of trochlear nerve (disorder) est un(e) (attribut) Familial disease true Inferred relationship Some
Familial congenital palsy of trochlear nerve (disorder) localisation d'une constatation (attribut) Trochlear nerve structure true Inferred relationship Some 1
Familial congenital palsy of trochlear nerve (disorder) est un(e) (attribut) Congenital palsy of trochlear nerve (disorder) true Inferred relationship Some
Familial congenital palsy of trochlear nerve (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Familial congenital palsy of trochlear nerve (disorder) est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Familial congenital palsy of trochlear nerve (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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