78921008: autosomaal recessief 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\Autosomal recessive ocular albinism (disorder)
\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\Autosomal recessive ocular albinism (disorder)
\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\Autosomal recessive ocular albinism (disorder)
\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\Autosomal recessive ocular albinism (disorder)
\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\Autosomal recessive ocular albinism (disorder)
\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\Autosomal recessive ocular albinism (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)

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

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Oculocutaneous albinism	Is a	False	Autosomal recessive ocular albinism (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
130955019	Autosomal recessive ocular albinism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
819915014	Autosomal recessive ocular albinism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1234304017	AROA - Autosomal recessive ocular albinism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6962121000146116	autosomaal recessief oculair albinisme (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6962131000146119	autosomaal recessief oculair albinisme	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)