88877002: Xeroderma pigmentosum, variant form (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)\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Skin AND/OR mucosa finding (finding)\Skin finding\Finding of moistness of skin\Dry skin\xérodermie (trouble)\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Degenerative skin disorder (disorder)\dépôts cutanés\xeroderma pigmentosum\variant du xeroderma pigmentosum
\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)\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\xérodermie (trouble)\xeroderma pigmentosum\variant du xeroderma pigmentosum

\constatation générale à propos des tissus mous\Skin finding\Finding of moistness of skin\Dry skin\xérodermie (trouble)\xeroderma pigmentosum\variant du xeroderma pigmentosum
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Degenerative skin disorder (disorder)\dépôts cutanés\xeroderma pigmentosum\variant du xeroderma pigmentosum
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\xeroderma pigmentosum\variant du xeroderma pigmentosum
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\xérodermie (trouble)\xeroderma pigmentosum\variant du xeroderma pigmentosum
\constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\xeroderma pigmentosum\variant du xeroderma pigmentosum
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\dépôts cutanés\xeroderma pigmentosum\variant du xeroderma pigmentosum
\constatation générale à propos des tissus mous\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)\xeroderma pigmentosum\variant du xeroderma pigmentosum
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\xérodermie (trouble)\xeroderma pigmentosum\variant du xeroderma pigmentosum

\constatation fonctionnelle\Abnormal keratinisation\Disorder of keratinisation\...

\Inherited disorder of keratinization\xeroderma pigmentosum\variant du xeroderma pigmentosum

\xérodermie (trouble)\xeroderma pigmentosum\variant du xeroderma pigmentosum

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\xérodermie (trouble)\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\dépôts cutanés\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Integumentary system finding\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)\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\xérodermie (trouble)\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Integumentary system finding\Skin finding\Finding of moistness of skin\Dry skin\xérodermie (trouble)\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Degenerative skin disorder (disorder)\dépôts cutanés\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Integumentary system finding\Skin finding\affection de la peau (trouble)\xérodermie (trouble)\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\xérodermie (trouble)\xeroderma pigmentosum\variant du xeroderma pigmentosum

\Disease\Genetic disease\maladie héréditaire\syndrome familial avec prédisposition aux cancers (trouble)\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Disease\affection dégénérative\Degenerative skin disorder (disorder)\dépôts cutanés\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\xérodermie (trouble)\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\dépôts cutanés\xeroderma pigmentosum\variant du xeroderma pigmentosum
\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)\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\xérodermie (trouble)\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\dépôts cutanés\xeroderma pigmentosum\variant du xeroderma pigmentosum
\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)\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\xérodermie (trouble)\xeroderma pigmentosum\variant du xeroderma pigmentosum
\Disease\trouble du développement\Developmental hereditary disorder\xeroderma pigmentosum\variant du xeroderma pigmentosum

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
variant du xeroderma pigmentosum	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
variant du xeroderma pigmentosum	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
variant du xeroderma pigmentosum	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
variant du xeroderma pigmentosum	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
variant du xeroderma pigmentosum	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
variant du xeroderma pigmentosum	est défini par la manifestation de (attribut)	Abnormal keratinisation	false	Inferred relationship	Some
variant du xeroderma pigmentosum	morphologie associée (attribut)	Papulovesicular rash	false	Inferred relationship	Some	1
variant du xeroderma pigmentosum	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
variant du xeroderma pigmentosum	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
variant du xeroderma pigmentosum	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	3
variant du xeroderma pigmentosum	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	4
variant du xeroderma pigmentosum	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
variant du xeroderma pigmentosum	localisation d'une constatation (attribut)	Structure of skin region	false	Inferred relationship	Some
variant du xeroderma pigmentosum	est un(e) (attribut)	xeroderma pigmentosum	true	Inferred relationship	Some
variant du xeroderma pigmentosum	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
variant du xeroderma pigmentosum	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
variant du xeroderma pigmentosum	morphologie associée (attribut)	Structure showing abnormal deposition of pigment (morphologic abnormality)	false	Inferred relationship	Some	1
variant du xeroderma pigmentosum	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
variant du xeroderma pigmentosum	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
variant du xeroderma pigmentosum	morphologie associée (attribut)	Structure showing abnormal deposition of pigment (morphologic abnormality)	true	Inferred relationship	Some	3
variant du xeroderma pigmentosum	morphologie associée (attribut)	dégénérescence	false	Inferred relationship	Some	2
variant du xeroderma pigmentosum	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
variant du xeroderma pigmentosum	survenue (attribut)	congénital	false	Inferred relationship	Some
variant du xeroderma pigmentosum	morphologie associée (attribut)	Structure showing abnormal deposition of pigment (morphologic abnormality)	false	Inferred relationship	Some	1
variant du xeroderma pigmentosum	morphologie associée (attribut)	atrophie (anomalie morphologique)	false	Inferred relationship	Some	4
variant du xeroderma pigmentosum	a pour interprétation (attribut)	anormal	true	Inferred relationship	Some	1
variant du xeroderma pigmentosum	interprète (attribut)	Keratinization, function (observable entity)	true	Inferred relationship	Some	1
variant du xeroderma pigmentosum	interprète (attribut)	moiteur de la peau	true	Inferred relationship	Some	4

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)

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
1007111000172111	variant du xeroderma pigmentosum	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
1235388013	Xeroderma pigmentosum XP variant	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
147363011	Xeroderma pigmentosum, variant form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
479901000241110	variant du xeroderma pigmentosum (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
831652015	Xeroderma pigmentosum, variant form (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
962281000172118	XPV - xeroderma pigmentosum variant	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)