26399002: oculair albinisme (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
\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
\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
\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
\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
\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
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism

\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
\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
\Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Ocular albinism
\Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Ocular albinism
\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
\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\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Ocular albinism
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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\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 (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Albinism\Ocular albinism
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\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)\Lesion of eye (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)\Lesion of eye (disorder)\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\Hereditary metabolic disease\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, 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	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	congenitale anomalie (afwijkende morfologie)	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	congenitale hypopigmentatie	false	Inferred relationship	Some	1
Ocular albinism	Associated morphology	Congenital deficiency	false	Inferred relationship	Some
Ocular albinism	Associated morphology	congenitale hypopigmentatie	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	congenitale hypopigmentatie	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	congenitale hypopigmentatie	false	Inferred relationship	Some	3
Ocular albinism	Is a	Lesion of eye (disorder)	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
syndroom van oculocutaan albinisme, lentigines en doofheid	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
oculocutaan albinisme met congenitaal perceptief gehoorverlies	Is a	False	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
44216016	Ocular albinism, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character 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
55621000146119	oculair albinisme	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
928491000146118	oculair albinisme (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)