78642008: Ocular albinism, type I (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\Ocular albinism, type I
\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Ocular albinism, type I
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Lesion of eye\Ocular albinism\Ocular albinism, type I
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Ocular albinism, type I

\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Ocular albinism\Ocular albinism, type I
\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Ocular albinism, type I
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Ocular albinism, type I

\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Lesion of eye\Ocular albinism\Ocular albinism, type I
\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Ocular albinism, type I
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Ocular albinism\Ocular albinism, type I
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Ocular albinism, type I
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\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\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\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\Albinism\Ocular albinism\Ocular albinism, type I
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Ocular albinism\Ocular albinism, type I
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Ocular albinism\Ocular albinism, type I
\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\Ocular albinism, type I
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\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 of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Ocular albinism\Ocular albinism, type I
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Ocular albinism\Ocular albinism, type I
\Disease\Disorder of head\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\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism\Ocular albinism, type I
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Ocular albinism, type I
\Disease\Congenital disease\Congenital malformation\Albinism\Ocular albinism\Ocular albinism, type I
\Disease\Congenital 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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

130493018 X-linked ocular albinism, Nettleship type en Synonym Active Entire term case sensitive SNOMED CT core module
200741016 Nettleship-Falls type ocular albinism en Synonym Active Entire term case sensitive SNOMED CT core module
200742011 Ocular albinism, type I en Synonym Active Only initial character case insensitive SNOMED CT core module
819605018 Ocular albinism, type I (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
1234278016 OA1 - X-linked ocular albinism en Synonym Active Entire term case sensitive SNOMED CT core module
1234279012 X-linked ocular albinism en Synonym Active Entire term case sensitive SNOMED CT core module
1234280010 X-linked recessive ocular albinism en Synonym Active Entire term case sensitive SNOMED CT core module
3037049018 X linked 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
Ocular albinism, type I	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
Ocular albinism, type I	Is a	Ocular albinism	true	Inferred relationship	Existential restriction modifier
Ocular albinism, type I	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	3
Ocular albinism, type I	Finding site	Orbital region structure	false	Inferred relationship	Existential restriction modifier	1
Ocular albinism, type I	Finding site	Structure of skin region	false	Inferred relationship	Existential restriction modifier	2
Ocular albinism, type I	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Ocular albinism, type I	Finding site	Structure of nervous system	false	Inferred relationship	Existential restriction modifier
Ocular albinism, type I	Finding site	Structure of eye proper	false	Inferred relationship	Existential restriction modifier	1
Ocular albinism, type I	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	1
Ocular albinism, type I	Associated morphology	Congenital deficiency	false	Inferred relationship	Existential restriction modifier
Ocular albinism, type I	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Ocular albinism, type I	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	1
Ocular albinism, type I	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier	1
Ocular albinism, type I	Finding site	Structure of eye proper	true	Inferred relationship	Existential restriction modifier	1
Ocular albinism, type I	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Existential restriction modifier	1
Ocular albinism, type I	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	1
Ocular albinism, type I	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Ocular albinism, type I	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Ocular albinism, type I	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier	2
Ocular albinism, type I	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	3
Ocular albinism, type I	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Ocular albinism, type I	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Ocular albinism, type I	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
130493018	X-linked ocular albinism, Nettleship type	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
200741016	Nettleship-Falls type ocular albinism	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
200742011	Ocular albinism, type I	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
819605018	Ocular albinism, type I (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
1234278016	OA1 - X-linked ocular albinism	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
1234279012	X-linked ocular albinism	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
1234280010	X-linked recessive ocular albinism	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3037049018	X linked ocular albinism	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module