56048001: Xeroderma pigmentosum, group E (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\Xeroderma pigmentosum, group E (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Finding of moistness of skin\Dry skin\xérodermie (trouble)\xeroderma pigmentosum\Xeroderma pigmentosum, group E (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Degenerative skin disorder (disorder)\dépôts cutanés\xeroderma pigmentosum\Xeroderma pigmentosum, group E (disorder)
\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\Xeroderma pigmentosum, group E (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\xérodermie (trouble)\xeroderma pigmentosum\Xeroderma pigmentosum, group E (disorder)

\constatation générale à propos des tissus mous\Skin finding\Finding of moistness of skin\Dry skin\xérodermie (trouble)\xeroderma pigmentosum\Xeroderma pigmentosum, group E (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Degenerative skin disorder (disorder)\dépôts cutanés\xeroderma pigmentosum\Xeroderma pigmentosum, group E (disorder)
\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\Xeroderma pigmentosum, group E (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\xérodermie (trouble)\xeroderma pigmentosum\Xeroderma pigmentosum, group E (disorder)
\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\Xeroderma pigmentosum, group E (disorder)
\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\Xeroderma pigmentosum, group E (disorder)
\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\Xeroderma pigmentosum, group E (disorder)
\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\Xeroderma pigmentosum, group E (disorder)

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

\Inherited disorder of keratinization\xeroderma pigmentosum\Xeroderma pigmentosum, group E (disorder)

\xérodermie (trouble)\xeroderma pigmentosum\Xeroderma pigmentosum, group E (disorder)

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

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

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

1231558012 Xeroderma pigmentosum group E en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
794517016 Xeroderma pigmentosum, group E (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
93232014 Xeroderma pigmentosum, group E en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1231558012	Xeroderma pigmentosum group E	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
794517016	Xeroderma pigmentosum, group E (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
93232014	Xeroderma pigmentosum, group E	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core