82342003: Yellow mutant oculocutaneous albinism (disorder)

SNOMED CT Concept\constatation clinique\...

\Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism

\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\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous 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\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Finding of head region\constatation à propos d'un globe oculaire\Lesion of eye structure\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism

\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous 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\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Lesion of eye structure\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous 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\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\trouble de la pigmentation\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous 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\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of tyrosine metabolism (disorder)\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\trouble métabolique\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\Congenital disease\Congenital malformation\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\Congenital disease\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\trouble du développement\Developmental hereditary disorder\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism
\Disease\trouble du développement\Congenital malformation\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Yellow mutant oculocutaneous albinism

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
Yellow mutant oculocutaneous albinism	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	true	Inferred relationship	Some	2
Yellow mutant oculocutaneous albinism	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Yellow mutant oculocutaneous albinism	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Yellow mutant oculocutaneous albinism	morphologie associée (attribut)	Hypopigmentation	false	Inferred relationship	Some	2
Yellow mutant oculocutaneous albinism	morphologie associée (attribut)	Hypopigmentation	false	Inferred relationship	Some	1
Yellow mutant oculocutaneous albinism	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	1
Yellow mutant oculocutaneous albinism	est un(e) (attribut)	Site-specific disorder of skin	false	Inferred relationship	Some
Yellow mutant oculocutaneous albinism	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Yellow mutant oculocutaneous albinism	morphologie associée (attribut)	Decreased melanin pigmentation	false	Inferred relationship	Some	1
Yellow mutant oculocutaneous albinism	est un(e) (attribut)	Tyrosinase-negative oculocutaneous albinism	true	Inferred relationship	Some
Yellow mutant oculocutaneous albinism	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	false	Inferred relationship	Some	1
Yellow mutant oculocutaneous albinism	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	1
Yellow mutant oculocutaneous albinism	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	1
Yellow mutant oculocutaneous albinism	morphologie associée (attribut)	Decreased melanin pigmentation	true	Inferred relationship	Some	1
Yellow mutant oculocutaneous albinism	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Yellow mutant oculocutaneous albinism	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	2
Yellow mutant oculocutaneous albinism	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Yellow mutant oculocutaneous albinism	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Yellow mutant oculocutaneous albinism	morphologie associée (attribut)	Decreased melanin pigmentation	false	Inferred relationship	Some	3
Yellow mutant oculocutaneous albinism	morphologie associée (attribut)	Decreased melanin pigmentation	true	Inferred relationship	Some	2
Yellow mutant oculocutaneous albinism	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	2
Yellow mutant oculocutaneous albinism	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	3
Yellow mutant oculocutaneous albinism	survenue (attribut)	congénital	false	Inferred relationship	Some
Yellow mutant oculocutaneous albinism	morphologie associée (attribut)	Congenital deficiency	false	Inferred relationship	Some
Yellow mutant oculocutaneous albinism	localisation d'une constatation (attribut)	Structure of skin region	false	Inferred relationship	Some
Yellow mutant oculocutaneous albinism	morphologie associée (attribut)	Yellow color	false	Inferred relationship	Some	1
Yellow mutant oculocutaneous albinism	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	false	Inferred relationship	Some	1
Yellow mutant oculocutaneous albinism	survenue (attribut)	congénital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
1234701010	Yellow oculocutaneous albinism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
136582013	Yellow mutant oculocutaneous albinism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
136584014	Amish albinism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
136585010	Yellow-type albinism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2647340015	Xanthous albinism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
823745011	Yellow mutant oculocutaneous albinism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core