78642008: oculair albinisme type 1 (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\Ocular albinism, type I
\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\Ocular albinism, type I
\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\Ocular albinism, type I
\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\Ocular albinism, type I
\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\Ocular albinism, type I
\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\Ocular albinism, type I
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Ocular albinism, type I

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

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Ocular albinism\Ocular albinism, type I
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Ocular albinism\Ocular albinism, type I
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Ocular albinism\Ocular albinism, type I
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Ocular albinism\Ocular albinism, type I
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Albinism\Ocular albinism\Ocular albinism, type I
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Ocular albinism, type I
\Disease\Disorder of pigmentation (disorder)\Albinism\Ocular albinism\Ocular albinism, type I
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism\Ocular albinism, type I
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Ocular albinism, type I
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Albinism\Ocular albinism\Ocular albinism, type I
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Albinism\Ocular albinism\Ocular albinism, type I
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Ocular albinism\Ocular albinism, type I
\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\Ocular albinism, type I
\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\Ocular albinism, type I
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Ocular albinism\Ocular albinism, type I
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism\Ocular albinism, type I
\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\Ocular albinism, type I
\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\Ocular albinism, type I
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Ocular albinism, type I
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Ocular albinism\Ocular albinism, type I
\Disease\Developmental disorder\Developmental hereditary disorder\Albinism\Ocular albinism\Ocular albinism, type I
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism\Ocular albinism, type I
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Ocular albinism, type I
\Disease\Developmental disorder\Congenital malformation\Albinism\Ocular albinism\Ocular albinism, type I

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ocular albinism, type I	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Ocular albinism, type I	Is a	Ocular albinism	true	Inferred relationship	Some
Ocular albinism, type I	Finding site	Skin structure	false	Inferred relationship	Some	3
Ocular albinism, type I	Finding site	Orbital region structure	false	Inferred relationship	Some	1
Ocular albinism, type I	Finding site	Structure of skin region	false	Inferred relationship	Some	2
Ocular albinism, type I	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Ocular albinism, type I	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some
Ocular albinism, type I	Finding site	Eye structure	false	Inferred relationship	Some	1
Ocular albinism, type I	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some	1
Ocular albinism, type I	Associated morphology	Congenital deficiency	false	Inferred relationship	Some
Ocular albinism, type I	Occurrence	Congenital	false	Inferred relationship	Some
Ocular albinism, type I	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some	1
Ocular albinism, type I	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	1
Ocular albinism, type I	Finding site	Eye structure	true	Inferred relationship	Some	1
Ocular albinism, type I	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Some	1
Ocular albinism, type I	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some	1
Ocular albinism, type I	Occurrence	Congenital	false	Inferred relationship	Some	2
Ocular albinism, type I	Occurrence	Congenital	false	Inferred relationship	Some	3
Ocular albinism, type I	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	2
Ocular albinism, type I	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some	3
Ocular albinism, type I	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ocular albinism, type I	Occurrence	Congenital	true	Inferred relationship	Some	1
Ocular albinism, type I	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
130493018	X-linked ocular albinism, Nettleship type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
200741016	Nettleship-Falls type ocular albinism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
200742011	Ocular albinism, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
819605018	Ocular albinism, type I (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1234278016	OA1 - X-linked ocular albinism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1234279012	X-linked ocular albinism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1234280010	X-linked recessive ocular albinism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3037049018	X linked ocular albinism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6144211000146117	X-gebonden recessief oculair albinisme	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6144231000146112	oculair albinisme type Nettleship-Falls	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6144241000146116	XLOA	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6144251000146118	OA1	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6144261000146115	oculair albinisme type 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6677541000146112	oculair albinisme type 1 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)