26399002: Ocular albinism (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
\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
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Ocular albinism
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Ocular albinism
\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
\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
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism

\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Ocular albinism
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Ocular albinism
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Ocular albinism
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\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\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Ocular albinism
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Ocular albinism
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Ocular albinism
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Ocular albinism
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Albinism\Ocular albinism
\Disease\Disorder of pigmentation (disorder)\Albinism\Ocular albinism
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Albinism\Ocular albinism
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Albinism\Ocular albinism
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Ocular albinism
\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
\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
\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 of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Ocular albinism
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Ocular albinism
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Ocular albinism
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Albinism\Ocular albinism
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism
\Disease\Developmental disorder (disorder)\Congenital malformation\Albinism\Ocular albinism

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2022. 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	Existential restriction modifier (core metadata concept)
Ocular albinism	Is a	Hereditary disorder of nervous system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ocular albinism	Is a	Hereditary disorder of the visual system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ocular albinism	Is a	Congenital anomaly of eye	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ocular albinism	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ocular albinism	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ocular albinism	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ocular albinism	Finding site	Orbital region structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ocular albinism	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ocular albinism	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ocular albinism	Finding site	Structure of skin region (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ocular albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ocular albinism	Associated morphology	Congenital deficiency	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ocular albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ocular albinism	Is a	Congenital anomaly of eye	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ocular albinism	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ocular albinism	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ocular albinism	Finding site	Eye structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ocular albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ocular albinism	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ocular albinism	Is a	Disorder of eye proper (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ocular albinism	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ocular albinism	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ocular albinism	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ocular albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ocular albinism	Is a	Lesion of eye (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ocular albinism	Is a	Anomaly of eye	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ocular albinism	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ocular albinism	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Aland eye disease and ocular albinism	Is a	True	Ocular albinism	Inferred relationship	Existential restriction modifier (core metadata concept)
Ocular albinism-lentigines-deafness syndrome	Is a	False	Ocular albinism	Inferred relationship	Existential restriction modifier (core metadata concept)
Ocular albinism, type I	Is a	True	Ocular albinism	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive ocular albinism (disorder)	Is a	True	Ocular albinism	Inferred relationship	Existential restriction modifier (core metadata concept)
Ocular albinism with late-onset sensorineural deafness (disorder)	Is a	True	Ocular albinism	Inferred relationship	Existential restriction modifier (core metadata concept)
Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit	Is a	False	Ocular albinism	Inferred relationship	Existential restriction modifier (core metadata concept)

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
44215017	Ocular albinism	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character case insensitive (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
560111000274116	Okulärer Albinismus	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
640371000274112	OA - Okulärer Albinismus	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
947901000172111	albinisme oculaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
947901000172111	albinisme oculaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
560111000274116	Okulärer Albinismus	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
640371000274112	OA - Okulärer Albinismus	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module