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 proper\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 proper\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 proper\Anomaly of eye\Lesion of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Finding of head region\Globe finding\Disorder of eye proper\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 proper\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 proper\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 proper\Anomaly of eye\Lesion of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Eye / vision finding\Globe finding\Disorder of eye proper\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 proper\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 proper\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 proper\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 proper\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 proper\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 proper\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 malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Disease\Congenital disease\Congenital malformation\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 malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Ocular albinism with late-onset sensorineural deafness
\Disease\Developmental disorder\Congenital malformation\Albinism\Ocular albinism\Ocular albinism with late-onset sensorineural deafness

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

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 SNOMED CT core module

3330402011 Ocular albinism with late-onset sensorineural deafness en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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	SNOMED CT core module
3330402011	Ocular albinism with late-onset sensorineural deafness	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module