78642008: Ocular albinism, type I (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism, type I
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism, type I
\Finding of head region\constatation à propos d'un globe oculaire\Lesion of eye structure\albinisme oculaire (trouble)\Ocular albinism, type I

\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism, type I
\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism, type I

\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism, type I
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Lesion of eye structure\albinisme oculaire (trouble)\Ocular albinism, type I
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism, type I
\constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\albinisme oculaire (trouble)\Ocular albinism, type I
\constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism, type I

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\albinisme oculaire (trouble)\Ocular albinism, type I
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Albinism\albinisme oculaire (trouble)\Ocular albinism, type I
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Albinism\albinisme oculaire (trouble)\Ocular albinism, type I
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Ocular albinism, type I
\Disease\trouble de la pigmentation\Albinism\albinisme oculaire (trouble)\Ocular albinism, type I
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\albinisme oculaire (trouble)\Ocular albinism, type I
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism, type I
\Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\albinisme oculaire (trouble)\Ocular albinism, type I
\Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism, type I
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism, type I
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism, type I
\Disease\trouble métabolique\Inborn error of metabolism\Albinism\albinisme oculaire (trouble)\Ocular albinism, type I
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism, type I
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism, type I
\Disease\Congenital disease\Congenital malformation\Albinism\albinisme oculaire (trouble)\Ocular albinism, type I
\Disease\Congenital disease\Inborn error of metabolism\Albinism\albinisme oculaire (trouble)\Ocular albinism, type I
\Disease\trouble du développement\Developmental hereditary disorder\Albinism\albinisme oculaire (trouble)\Ocular albinism, type I
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism, type I
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\albinisme oculaire (trouble)\Ocular albinism, type I
\Disease\trouble du développement\Congenital malformation\Albinism\albinisme oculaire (trouble)\Ocular albinism, type I

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ocular albinism, type I	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ocular albinism, type I	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Ocular albinism, type I	est un(e) (attribut)	X-linked recessive hereditary disease	true	Inferred relationship	Some
Ocular albinism, type I	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	1
Ocular albinism, type I	morphologie associée (attribut)	Decreased melanin pigmentation	false	Inferred relationship	Some	1
Ocular albinism, type I	est un(e) (attribut)	X-linked hereditary disease	false	Inferred relationship	Some
Ocular albinism, type I	est un(e) (attribut)	albinisme oculaire (trouble)	true	Inferred relationship	Some
Ocular albinism, type I	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	true	Inferred relationship	Some	1
Ocular albinism, type I	morphologie associée (attribut)	Decreased melanin pigmentation	true	Inferred relationship	Some	1
Ocular albinism, type I	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	1
Ocular albinism, type I	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Ocular albinism, type I	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Ocular albinism, type I	morphologie associée (attribut)	Decreased melanin pigmentation	false	Inferred relationship	Some	2
Ocular albinism, type I	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	3
Ocular albinism, type I	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	3
Ocular albinism, type I	localisation d'une constatation (attribut)	Orbital region structure	false	Inferred relationship	Some	1
Ocular albinism, type I	localisation d'une constatation (attribut)	Structure of skin region	false	Inferred relationship	Some	2
Ocular albinism, type I	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Ocular albinism, type I	localisation d'une constatation (attribut)	système nerveux	false	Inferred relationship	Some
Ocular albinism, type I	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	false	Inferred relationship	Some	1
Ocular albinism, type I	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	1
Ocular albinism, type I	morphologie associée (attribut)	Congenital deficiency	false	Inferred relationship	Some
Ocular albinism, type I	survenue (attribut)	congénital	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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