78921008: Autosomal recessive ocular albinism (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Ocular albinism\Autosomal recessive ocular albinism
\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Lesion of eye\Ocular albinism\Autosomal recessive ocular albinism
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism

\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Ocular albinism\Autosomal recessive ocular albinism
\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism

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

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Ocular albinism\Autosomal recessive ocular albinism
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Ocular albinism\Autosomal recessive ocular albinism
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Albinism\Ocular albinism\Autosomal recessive ocular albinism
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ocular albinism
\Disease\Disorder of pigmentation\Albinism\Ocular albinism\Autosomal recessive ocular albinism
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Ocular albinism\Autosomal recessive ocular albinism
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Ocular albinism\Autosomal recessive ocular albinism
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Ocular albinism\Autosomal recessive ocular albinism
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Ocular albinism\Autosomal recessive ocular albinism
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Ocular albinism\Autosomal recessive ocular albinism
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism
\Disease\Congenital disease\Congenital malformation\Albinism\Ocular albinism\Autosomal recessive ocular albinism
\Disease\Congenital disease\Inborn error of metabolism\Albinism\Ocular albinism\Autosomal recessive ocular albinism
\Disease\Developmental disorder\Developmental hereditary disorder\Albinism\Ocular albinism\Autosomal recessive ocular albinism
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism
\Disease\Developmental disorder\Congenital malformation\Albinism\Ocular albinism\Autosomal recessive ocular albinism

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

Descriptions:

Id Description Lang Type Status Case? Module

130955019 Autosomal recessive ocular albinism en Synonym Active Entire term case insensitive SNOMED CT core module

819915014 Autosomal recessive ocular albinism (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1234304017 AROA - Autosomal recessive ocular albinism en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive ocular albinism	Is a	Congenital disorder due to abnormality of chromosome number OR structure	false	Inferred relationship	Existential restriction modifier
Autosomal recessive ocular albinism	Is a	Ocular albinism	true	Inferred relationship	Existential restriction modifier
Autosomal recessive ocular albinism	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal recessive ocular albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	3
Autosomal recessive ocular albinism	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	3
Autosomal recessive ocular albinism	Finding site	Structure of skin region	false	Inferred relationship	Existential restriction modifier	3
Autosomal recessive ocular albinism	Finding site	Structure of eye proper	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive ocular albinism	Associated morphology	Congenital deficiency	false	Inferred relationship	Existential restriction modifier
Autosomal recessive ocular albinism	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Autosomal recessive ocular albinism	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive ocular albinism	Finding site	Structure of nervous system	false	Inferred relationship	Existential restriction modifier
Autosomal recessive ocular albinism	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive ocular albinism	Finding site	Eye region structure	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive ocular albinism	Finding site	Structure of eye proper	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive ocular albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive ocular albinism	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive ocular albinism	Finding site	Structure of eye proper	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive ocular albinism	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive ocular albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive ocular albinism	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Autosomal recessive ocular albinism	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Autosomal recessive ocular albinism	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier	2
Autosomal recessive ocular albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	3
Autosomal recessive ocular albinism	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive ocular albinism	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Oculocutaneous albinism	Is a	False	Autosomal recessive ocular albinism	Inferred relationship	Existential restriction modifier

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	Active	Entire term case insensitive	SNOMED CT core module
819915014	Autosomal recessive ocular albinism (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1234304017	AROA - Autosomal recessive ocular albinism	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module