62144003: Punctate oculocutaneous albinoidism (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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism

\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\Finding of head region\constatation à propos d'un globe oculaire\Lesion of eye structure\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism

\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism

\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Albinism\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Albinism\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\Disease\trouble de la pigmentation\Albinism\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\Disease\trouble métabolique\Inborn error of metabolism\Albinism\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\Disease\Congenital disease\Congenital malformation\Albinism\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\Disease\Congenital disease\Inborn error of metabolism\Albinism\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\Disease\trouble du développement\Developmental hereditary disorder\Albinism\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\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\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism
\Disease\trouble du développement\Congenital malformation\Albinism\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)\Punctate oculocutaneous albinoidism

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

Descriptions:

Id Description Lang Type Status Case? Module

103288015 Punctate oculocutaneous albinoidism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

801284017 Punctate oculocutaneous albinoidism (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
Punctate oculocutaneous albinoidism	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Punctate oculocutaneous albinoidism	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Punctate oculocutaneous albinoidism	morphologie associée (attribut)	Hypopigmentation	false	Inferred relationship	Some	1
Punctate oculocutaneous albinoidism	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	true	Inferred relationship	Some	2
Punctate oculocutaneous albinoidism	est un(e) (attribut)	albinisme oculo-cutané type 2 (trouble)	true	Inferred relationship	Some
Punctate oculocutaneous albinoidism	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Punctate oculocutaneous albinoidism	morphologie associée (attribut)	Decreased melanin pigmentation	true	Inferred relationship	Some	1
Punctate oculocutaneous albinoidism	localisation d'une constatation (attribut)	Eye region structure (body structure)	false	Inferred relationship	Some
Punctate oculocutaneous albinoidism	est un(e) (attribut)	Oculocutaneous albinoidism	false	Inferred relationship	Some
Punctate oculocutaneous albinoidism	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	1
Punctate oculocutaneous albinoidism	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	false	Inferred relationship	Some	1
Punctate oculocutaneous albinoidism	morphologie associée (attribut)	Decreased melanin pigmentation	false	Inferred relationship	Some
Punctate oculocutaneous albinoidism	localisation d'une constatation (attribut)	Eye region structure (body structure)	false	Inferred relationship	Some
Punctate oculocutaneous albinoidism	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Punctate oculocutaneous albinoidism	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	1
Punctate oculocutaneous albinoidism	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	1
Punctate oculocutaneous albinoidism	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Punctate oculocutaneous albinoidism	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Punctate oculocutaneous albinoidism	morphologie associée (attribut)	Decreased melanin pigmentation	true	Inferred relationship	Some	2
Punctate oculocutaneous albinoidism	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	3
Punctate oculocutaneous albinoidism	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	3
Punctate oculocutaneous albinoidism	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	1
Punctate oculocutaneous albinoidism	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	3
Punctate oculocutaneous albinoidism	morphologie associée (attribut)	Congenital deficiency	false	Inferred relationship	Some
Punctate oculocutaneous albinoidism	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	false	Inferred relationship	Some
Punctate oculocutaneous albinoidism	survenue (attribut)	congénital	false	Inferred relationship	Some
Punctate oculocutaneous albinoidism	localisation d'une constatation (attribut)	Structure of skin region	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

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Id	Description	Lang	Type	Status	Case?	Module
103288015	Punctate oculocutaneous albinoidism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
801284017	Punctate oculocutaneous albinoidism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core