78921008: Autosomal recessive ocular albinism (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)\Autosomal recessive ocular albinism
\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)\Autosomal recessive ocular albinism
\Finding of head region\constatation à propos d'un globe oculaire\Lesion of eye structure\albinisme oculaire (trouble)\Autosomal recessive ocular albinism

\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)\Autosomal recessive ocular albinism
\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\albinisme oculaire (trouble)\Autosomal recessive ocular albinism

\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)\Autosomal recessive ocular albinism
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Lesion of eye structure\albinisme oculaire (trouble)\Autosomal recessive ocular albinism
\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)\Autosomal recessive ocular albinism
\constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\albinisme oculaire (trouble)\Autosomal recessive ocular albinism
\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)\Autosomal recessive ocular albinism

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\albinisme oculaire (trouble)\Autosomal recessive ocular albinism
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Albinism\albinisme oculaire (trouble)\Autosomal recessive ocular albinism
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Albinism\albinisme oculaire (trouble)\Autosomal recessive ocular albinism
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ocular albinism
\Disease\trouble de la pigmentation\Albinism\albinisme oculaire (trouble)\Autosomal recessive ocular albinism
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\albinisme oculaire (trouble)\Autosomal recessive ocular albinism
\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)\Autosomal recessive ocular albinism
\Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\albinisme oculaire (trouble)\Autosomal recessive ocular albinism
\Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\albinisme oculaire (trouble)\Autosomal recessive ocular albinism
\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)\Autosomal recessive ocular albinism
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\albinisme oculaire (trouble)\Autosomal recessive ocular albinism
\Disease\trouble métabolique\Inborn error of metabolism\Albinism\albinisme oculaire (trouble)\Autosomal recessive ocular albinism
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\albinisme oculaire (trouble)\Autosomal recessive ocular albinism
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\albinisme oculaire (trouble)\Autosomal recessive ocular albinism
\Disease\Congenital disease\Congenital malformation\Albinism\albinisme oculaire (trouble)\Autosomal recessive ocular albinism
\Disease\Congenital disease\Inborn error of metabolism\Albinism\albinisme oculaire (trouble)\Autosomal recessive ocular albinism
\Disease\trouble du développement\Developmental hereditary disorder\Albinism\albinisme oculaire (trouble)\Autosomal recessive ocular albinism
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\albinisme oculaire (trouble)\Autosomal recessive ocular albinism
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\albinisme oculaire (trouble)\Autosomal recessive ocular albinism
\Disease\trouble du développement\Congenital malformation\Albinism\albinisme oculaire (trouble)\Autosomal recessive ocular albinism

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

Descriptions:

Id Description Lang Type Status Case? Module

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 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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive ocular albinism	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal recessive ocular albinism	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Autosomal recessive ocular albinism	localisation d'une constatation (attribut)	Eye region structure (body structure)	false	Inferred relationship	Some	1
Autosomal recessive ocular albinism	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	false	Inferred relationship	Some	1
Autosomal recessive ocular albinism	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	1
Autosomal recessive ocular albinism	morphologie associée (attribut)	Decreased melanin pigmentation	false	Inferred relationship	Some	1
Autosomal recessive ocular albinism	est un(e) (attribut)	maladie chromosomique congénitale	false	Inferred relationship	Some
Autosomal recessive ocular albinism	est un(e) (attribut)	albinisme oculaire (trouble)	true	Inferred relationship	Some
Autosomal recessive ocular albinism	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive ocular albinism	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	true	Inferred relationship	Some	1
Autosomal recessive ocular albinism	morphologie associée (attribut)	Decreased melanin pigmentation	true	Inferred relationship	Some	1
Autosomal recessive ocular albinism	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	1
Autosomal recessive ocular albinism	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Autosomal recessive ocular albinism	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Autosomal recessive ocular albinism	morphologie associée (attribut)	Decreased melanin pigmentation	false	Inferred relationship	Some	2
Autosomal recessive ocular albinism	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	3
Autosomal recessive ocular albinism	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	3
Autosomal recessive ocular albinism	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	3
Autosomal recessive ocular albinism	localisation d'une constatation (attribut)	Structure of skin region	false	Inferred relationship	Some	3
Autosomal recessive ocular albinism	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	false	Inferred relationship	Some	1
Autosomal recessive ocular albinism	morphologie associée (attribut)	Congenital deficiency	false	Inferred relationship	Some
Autosomal recessive ocular albinism	survenue (attribut)	congénital	false	Inferred relationship	Some
Autosomal recessive ocular albinism	morphologie associée (attribut)	Alteration of chromosome structure	false	Inferred relationship	Some	1
Autosomal recessive ocular albinism	localisation d'une constatation (attribut)	système nerveux	false	Inferred relationship	Some
Autosomal recessive ocular albinism	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Oculocutaneous albinism	est un(e) (attribut)	False	Autosomal recessive ocular albinism	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
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	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