722054007: Ocular albinism with late-onset sensorineural deafness (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Acquired hearing loss (disorder)\Acquired sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Acquired sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Acquired hearing loss (disorder)\Acquired sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Acquired sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\...
• \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\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Albinism\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked sensorineural hearing loss\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Disorder of pigmentation (disorder)\Albinism\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Albinism\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Albinism\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Acquired hearing loss (disorder)\Acquired sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Acquired sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Albinism\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Albinism\Ocular albinism\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
5402795011	Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402796012	Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterised by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330401016	Ocular albinism with late-onset sensorineural deafness (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
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
5402795011	Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402796012	Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterised by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3388891001000118	Okulärer Albinismus mit spät einsetzender sensorineuraler Schwerhörigkeit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
927551000172115	albinisme oculaire avec surdité sensorielle tardive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
927551000172115	albinisme oculaire avec surdité sensorielle tardive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3388891001000118	Okulärer Albinismus mit spät einsetzender sensorineuraler Schwerhörigkeit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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