26399002: Ocular albinism (disorder)

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

\Finding of head and neck region\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\Ocular albinism
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Ocular albinism
\Finding of head region\Globe finding\Lesion of eye structure\Ocular albinism

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Ocular albinism
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism

\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Ocular albinism
\Eye / vision finding\Globe finding\Lesion of eye structure\Ocular albinism
\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
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Ocular albinism
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Ocular albinism
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Albinism\Ocular albinism
\Disease\Genetic disease\Hereditary disease\Inborn error of metabolism\Albinism\Ocular albinism
\Disease\Disorder of pigmentation (disorder)\Albinism\Ocular albinism
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Ocular albinism
\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
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Ocular albinism
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism
\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
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism
\Disease\Metabolic disease\Inborn error of metabolism\Albinism\Ocular albinism
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism
\Disease\Congenital disease (disorder)\Congenital malformation\Albinism\Ocular albinism
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Albinism\Ocular albinism
\Disease\Developmental disorder\Developmental hereditary disorder\Albinism\Ocular albinism
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism
\Disease\Developmental disorder\Congenital malformation\Albinism\Ocular albinism

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ocular albinism	Is a	Albinism	true	Inferred relationship	Some
Ocular albinism	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Ocular albinism	Is a	Hereditary disorder of the visual system (disorder)	false	Inferred relationship	Some
Ocular albinism	Is a	Congenital anomaly of eye	false	Inferred relationship	Some
Ocular albinism	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Ocular albinism	Finding site	Skin structure	false	Inferred relationship	Some	3
Ocular albinism	Finding site	Eye structure	false	Inferred relationship	Some	1
Ocular albinism	Finding site	Orbital region structure	false	Inferred relationship	Some	1
Ocular albinism	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some
Ocular albinism	Occurrence	Congenital	false	Inferred relationship	Some
Ocular albinism	Finding site	Structure of skin region	false	Inferred relationship	Some	1
Ocular albinism	Associated morphology	kongenital hypopigmentering	false	Inferred relationship	Some	1
Ocular albinism	Associated morphology	medfödd brist	false	Inferred relationship	Some
Ocular albinism	Associated morphology	kongenital hypopigmentering	false	Inferred relationship	Some	1
Ocular albinism	Is a	Congenital anomaly of eye	true	Inferred relationship	Some
Ocular albinism	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Ocular albinism	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	1
Ocular albinism	Finding site	Eye structure	true	Inferred relationship	Some	1
Ocular albinism	Associated morphology	kongenital hypopigmentering	false	Inferred relationship	Some	1
Ocular albinism	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Some	1
Ocular albinism	Is a	Disorder of eye proper (disorder)	false	Inferred relationship	Some
Ocular albinism	Occurrence	Congenital	false	Inferred relationship	Some	2
Ocular albinism	Occurrence	Congenital	false	Inferred relationship	Some	3
Ocular albinism	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	2
Ocular albinism	Associated morphology	kongenital hypopigmentering	false	Inferred relationship	Some	3
Ocular albinism	Is a	Lesion of eye structure	true	Inferred relationship	Some
Ocular albinism	Is a	Anomaly of eye (disorder)	false	Inferred relationship	Some
Ocular albinism	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ocular albinism	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Aland eye disease and ocular albinism	Is a	True	Ocular albinism	Inferred relationship	Some
okulär albinism - lentiginos - dövhetssyndrom	Is a	False	Ocular albinism	Inferred relationship	Some
Ocular albinism, type I	Is a	True	Ocular albinism	Inferred relationship	Some
Autosomal recessive ocular albinism (disorder)	Is a	True	Ocular albinism	Inferred relationship	Some
Ocular albinism with late-onset sensorineural deafness (disorder)	Is a	True	Ocular albinism	Inferred relationship	Some
Ocular albinism with congenital sensorineural deafness	Is a	True	Ocular albinism	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
44215017	Ocular albinism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
483222017	OA - Ocular albinism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
756826015	Ocular albinism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
789461000052115	okulär albinism	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)