78921008: Autosomal recessive 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\Autosomal recessive ocular albinism (disorder)
\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\Autosomal recessive ocular albinism (disorder)
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Ocular albinism\Autosomal recessive ocular albinism (disorder)
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)
\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\Autosomal recessive ocular albinism (disorder)
\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\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\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Ocular albinism\Autosomal recessive ocular albinism (disorder)
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Ocular albinism\Autosomal recessive ocular albinism (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\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\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\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 (disorder)\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\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\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\Congenital malformation\Albinism\Ocular albinism\Autosomal recessive ocular albinism (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Albinism\Ocular albinism\Autosomal recessive ocular albinism (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\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 of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Ocular albinism\Autosomal recessive ocular albinism (disorder)
\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\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 of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Ocular albinism\Autosomal recessive ocular albinism (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\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 (disorder)\Developmental hereditary disorder\Albinism\Ocular albinism\Autosomal recessive ocular albinism (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)
\Disease\Developmental disorder (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	Existential restriction modifier (core metadata concept)
Autosomal recessive ocular albinism (disorder)	Is a	Ocular albinism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive ocular albinism (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive ocular albinism (disorder)	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive ocular albinism (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive ocular albinism (disorder)	Finding site	Structure of skin region (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive ocular albinism (disorder)	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive ocular albinism (disorder)	Associated morphology	Congenital deficiency	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive ocular albinism (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive ocular albinism (disorder)	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive ocular albinism (disorder)	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive ocular albinism (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive ocular albinism (disorder)	Finding site	Eye region structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive ocular albinism (disorder)	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive ocular albinism (disorder)	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive ocular albinism (disorder)	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive ocular albinism (disorder)	Finding site	Eye structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive ocular albinism (disorder)	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive ocular albinism (disorder)	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive ocular albinism (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal recessive ocular albinism (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive ocular albinism (disorder)	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal recessive ocular albinism (disorder)	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive ocular albinism (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive ocular albinism (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Oculocutaneous albinism	Is a	False	Autosomal recessive ocular albinism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start

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
130955019	Autosomal recessive ocular albinism	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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
543451000274113	AROA - Autosomal-rezessiver okulärer Albinismus	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
648501000274111	Autosomal-rezessiver okulärer Albinismus	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4648031000241118	albinisme oculaire autosomal récessif	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4648031000241118	albinisme oculaire autosomal récessif	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
543451000274113	AROA - Autosomal-rezessiver okulärer Albinismus	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
648501000274111	Autosomal-rezessiver okulärer Albinismus	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module