722054007: oculair albinisme met laat optredende sensorineurale doofheid (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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 (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 (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Acquired hearing loss (disorder)\Acquired sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Acquired sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Ocular albinism with late-onset sensorineural deafness (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Acquired hearing loss (disorder)\Acquired sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Acquired sensorineural hearing loss (disorder)\Ocular albinism with late-onset sensorineural deafness (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Ocular albinism with late-onset sensorineural deafness (disorder)

\Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
\Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
\Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
\Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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\Finding of sensory function\Hearing finding (finding)\Hearing 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 (disorder)\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 (disorder)\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\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\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\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\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 (disorder)\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 (disorder)\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 (disorder)\Congenital malformation\Albinism\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Albinism\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\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\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\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\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\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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\Developmental hereditary disorder\Albinism\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
\Disease\Developmental 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\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness (disorder)
\Disease\Developmental 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

6144141000146113 oculair albinisme met laat optredende sensorineurale doofheid nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6144151000146111 oculair albinisme met laat optredende sensorineurale doofheid (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained 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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ocular albinism with late-onset sensorineural deafness (disorder)	Is a	Ocular albinism	true	Inferred relationship	Some
Ocular albinism with late-onset sensorineural deafness (disorder)	Is a	Sensorineural hearing loss	false	Inferred relationship	Some
Ocular albinism with late-onset sensorineural deafness (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Ocular albinism with late-onset sensorineural deafness (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Ocular albinism with late-onset sensorineural deafness (disorder)	Is a	Auditory system hereditary disorder	false	Inferred relationship	Some
Ocular albinism with late-onset sensorineural deafness (disorder)	Finding site	Structure of auditory system (body structure)	false	Inferred relationship	Some	3
Ocular albinism with late-onset sensorineural deafness (disorder)	Interprets	Hearing	false	Inferred relationship	Some	2
Ocular albinism with late-onset sensorineural deafness (disorder)	Interprets	observatie betreffende functioneren	false	Inferred relationship	Some
Ocular albinism with late-onset sensorineural deafness (disorder)	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	6
Ocular albinism with late-onset sensorineural deafness (disorder)	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some	7
Ocular albinism with late-onset sensorineural deafness (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	7
Ocular albinism with late-onset sensorineural deafness (disorder)	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	8
Ocular albinism with late-onset sensorineural deafness (disorder)	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some	6
Ocular albinism with late-onset sensorineural deafness (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	8
Ocular albinism with late-onset sensorineural deafness (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	6
Ocular albinism with late-onset sensorineural deafness (disorder)	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Some	1
Ocular albinism with late-onset sensorineural deafness (disorder)	Finding site	Eye structure	true	Inferred relationship	Some	1
Ocular albinism with late-onset sensorineural deafness (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ocular albinism with late-onset sensorineural deafness (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Ocular albinism with late-onset sensorineural deafness (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Ocular albinism with late-onset sensorineural deafness (disorder)	Is a	Acquired sensorineural hearing loss (disorder)	true	Inferred relationship	Some
Ocular albinism with late-onset sensorineural deafness (disorder)	Interprets	Hearing	true	Inferred relationship	Some	3
Ocular albinism with late-onset sensorineural deafness (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Ocular albinism with late-onset sensorineural deafness (disorder)	Occurrence	Adulthood	true	Inferred relationship	Some	2
Ocular albinism with late-onset sensorineural deafness (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	2
Ocular albinism with late-onset sensorineural deafness (disorder)	Is a	X-linked sensorineural hearing loss	true	Inferred relationship	Some
Ocular albinism with late-onset sensorineural deafness (disorder)	Is a	Congenital hearing loss (disorder)	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
6144141000146113	oculair albinisme met laat optredende sensorineurale doofheid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6144151000146111	oculair albinisme met laat optredende sensorineurale doofheid (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained 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