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

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Ocular albinism\Autosomal recessive ocular albinism
\Disorder of head\Disorder of eye region\Disorder of eye\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\Anomaly of eye\Lesion of eye\Ocular albinism\Autosomal recessive ocular albinism
\Eye / vision finding\Globe finding\Disorder of eye\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\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\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\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\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\Anomaly of eye\Lesion of eye\Ocular albinism\Autosomal recessive ocular albinism
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\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 anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism
\Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism
\Disease\Developmental disorder\Congenital anomaly\Albinism\Ocular albinism\Autosomal recessive ocular albinism

Status: current, Defined. Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1234304017 AROA - Autosomal recessive ocular albinism en Synonym Active Case sensitive SNOMED CT core

130955019 Autosomal recessive ocular albinism en Synonym Active Case insensitive SNOMED CT core

819915014 Autosomal recessive ocular albinism (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

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

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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
1234304017	AROA - Autosomal recessive ocular albinism	en	Synonym	Active	Case sensitive	SNOMED CT core
130955019	Autosomal recessive ocular albinism	en	Synonym	Active	Case insensitive	SNOMED CT core
819915014	Autosomal recessive ocular albinism (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core