722054007: albinisme oculaire avec surdité sensorielle tardive (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Lesion of eye structure\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\X-linked sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Acquired hearing loss (disorder)\Acquired sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Acquired sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\X-linked sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Acquired hearing loss (disorder)\Acquired sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Acquired sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\X-linked sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Lesion of eye structure\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\...
• \Acquired hearing loss (disorder)\Acquired sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Sensorineural hearing loss\Acquired sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Sensorineural hearing loss\X-linked sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\X-linked sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Albinism\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Albinism\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\trouble de la pigmentation\Albinism\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\X-linked sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\X-linked sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Acquired hearing loss (disorder)\Acquired sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Acquired sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\X-linked sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\trouble métabolique\Inborn error of metabolism\Albinism\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Congenital disease\Congenital malformation\Albinism\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Congenital disease\Inborn error of metabolism\Albinism\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Albinism\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\trouble du développement\Congenital malformation\Albinism\albinisme oculaire (trouble)\Ocular albinism with late-onset sensorineural deafness (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3330401016	Ocular albinism with late-onset sensorineural deafness (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330402011	Ocular albinism with late-onset sensorineural deafness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
758091000241117	albinisme oculaire avec surdité sensorielle tardive (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
927551000172115	albinisme oculaire avec surdité sensorielle tardive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3330403018	A rare X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date with characteristics of severe visual impairment, translucent pale-blue irides, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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