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

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Ocular albinism with late-onset sensorineural deafness
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Acquired hearing loss\Acquired sensorineural hearing loss\Ocular albinism with late-onset sensorineural deafness
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Acquired sensorineural hearing loss\Ocular albinism with late-onset sensorineural deafness
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Ocular albinism with late-onset sensorineural deafness
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Acquired hearing loss\Acquired sensorineural hearing loss\Ocular albinism with late-onset sensorineural deafness
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Acquired sensorineural hearing loss\Ocular albinism with late-onset sensorineural deafness
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Ocular albinism with late-onset sensorineural deafness

\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness

\Functional finding\Hearing finding\Hearing disorder\Hearing loss\...

\Acquired hearing loss\Acquired sensorineural hearing loss\Ocular albinism with late-onset sensorineural deafness

\Sensorineural hearing loss\Acquired sensorineural hearing loss\Ocular albinism with late-onset sensorineural deafness
\Sensorineural hearing loss\X-linked sensorineural hearing loss\Ocular albinism with late-onset sensorineural deafness

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\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
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Albinism\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\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
\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
\Disease\Disorder of pigmentation\Albinism\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\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
\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
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Acquired hearing loss\Acquired sensorineural hearing loss\Ocular albinism with late-onset sensorineural deafness
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Acquired sensorineural hearing loss\Ocular albinism with late-onset sensorineural deafness
\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
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\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
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Disease\Congenital disease\Congenital anomaly\Albinism\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Disease\Congenital disease\Inborn error of metabolism\Albinism\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Disease\Developmental disorder\Developmental hereditary disorder\Albinism\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Disease\Developmental disorder\Congenital anomaly\Albinism\Ocular albinism\Ocular albinism with late-onset sensorineural deafness

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3330402011 Ocular albinism with late-onset sensorineural deafness en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3330401016	Ocular albinism with late-onset sensorineural deafness (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3330402011	Ocular albinism with late-onset sensorineural deafness	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core