44600005: Xeroderma pigmentosum (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
\Skin AND/OR mucosa finding (finding)\Skin finding\Finding of moistness of skin\Dry skin\xérodermie (trouble)\xeroderma pigmentosum
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Degenerative skin disorder (disorder)\dépôts cutanés\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
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\xérodermie (trouble)\xeroderma pigmentosum

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

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

\Inherited disorder of keratinization\xeroderma pigmentosum

\xérodermie (trouble)\xeroderma pigmentosum

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

\Disease\Genetic disease\maladie héréditaire\syndrome familial avec prédisposition aux cancers (trouble)\xeroderma pigmentosum
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\xeroderma pigmentosum
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\xeroderma pigmentosum
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\xeroderma pigmentosum
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\xeroderma pigmentosum
\Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\xeroderma pigmentosum
\Disease\affection dégénérative\Degenerative skin disorder (disorder)\dépôts cutanés\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
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\xeroderma pigmentosum
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\xeroderma pigmentosum
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\xeroderma pigmentosum
\Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\xeroderma pigmentosum
\Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\xérodermie (trouble)\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
\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
\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
\Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\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
\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
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\xérodermie (trouble)\xeroderma pigmentosum
\Disease\trouble du développement\Developmental hereditary disorder\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
xeroderma pigmentosum	est un(e) (attribut)	kératose	false	Inferred relationship	Some
xeroderma pigmentosum	est un(e) (attribut)	Inherited disorder of keratinization	true	Inferred relationship	Some
xeroderma pigmentosum	est un(e) (attribut)	dépôts cutanés	true	Inferred relationship	Some
xeroderma pigmentosum	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
xeroderma pigmentosum	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
xeroderma pigmentosum	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
xeroderma pigmentosum	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
xeroderma pigmentosum	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
xeroderma pigmentosum	est un(e) (attribut)	Atrophic condition of skin	false	Inferred relationship	Some
xeroderma pigmentosum	est un(e) (attribut)	Hereditary disorder of the integument	false	Inferred relationship	Some
xeroderma pigmentosum	est un(e) (attribut)	Genodermatosis	false	Inferred relationship	Some
xeroderma pigmentosum	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
xeroderma pigmentosum	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
xeroderma pigmentosum	est un(e) (attribut)	état atrophique de la peau (trouble)	false	Inferred relationship	Some
xeroderma pigmentosum	est un(e) (attribut)	xérodermie (trouble)	true	Inferred relationship	Some
xeroderma pigmentosum	est défini par la manifestation de (attribut)	Abnormal keratinisation	false	Inferred relationship	Some
xeroderma pigmentosum	morphologie associée (attribut)	Papulovesicular rash	false	Inferred relationship	Some	1
xeroderma pigmentosum	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
xeroderma pigmentosum	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	3
xeroderma pigmentosum	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	3
xeroderma pigmentosum	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
xeroderma pigmentosum	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	4
xeroderma pigmentosum	est un(e) (attribut)	Disorder of skin pigmentation (disorder)	false	Inferred relationship	Some
xeroderma pigmentosum	localisation d'une constatation (attribut)	Structure of skin region	false	Inferred relationship	Some
xeroderma pigmentosum	est un(e) (attribut)	affection dégénérative	false	Inferred relationship	Some
xeroderma pigmentosum	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
xeroderma pigmentosum	morphologie associée (attribut)	Structure showing abnormal deposition of pigment (morphologic abnormality)	false	Inferred relationship	Some	1
xeroderma pigmentosum	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
xeroderma pigmentosum	est un(e) (attribut)	syndrome familial avec prédisposition aux cancers (trouble)	true	Inferred relationship	Some
xeroderma pigmentosum	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
xeroderma pigmentosum	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
xeroderma pigmentosum	morphologie associée (attribut)	Structure showing abnormal deposition of pigment (morphologic abnormality)	true	Inferred relationship	Some	3
xeroderma pigmentosum	est un(e) (attribut)	Genetic disorder of skin pigmentation (disorder)	true	Inferred relationship	Some
xeroderma pigmentosum	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
xeroderma pigmentosum	morphologie associée (attribut)	Structure showing abnormal deposition of pigment (morphologic abnormality)	false	Inferred relationship	Some	1
xeroderma pigmentosum	morphologie associée (attribut)	atrophie (anomalie morphologique)	false	Inferred relationship	Some	4
xeroderma pigmentosum	survenue (attribut)	congénital	false	Inferred relationship	Some
xeroderma pigmentosum	morphologie associée (attribut)	dégénérescence	false	Inferred relationship	Some	2
xeroderma pigmentosum	a pour interprétation (attribut)	anormal	true	Inferred relationship	Some	1
xeroderma pigmentosum	interprète (attribut)	Keratinization, function (observable entity)	true	Inferred relationship	Some	1
xeroderma pigmentosum	interprète (attribut)	moiteur de la peau	true	Inferred relationship	Some	4

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pigmented xerodermoid	est un(e) (attribut)	True	xeroderma pigmentosum	Inferred relationship	Some
Xeroderma pigmentosum, group C	est un(e) (attribut)	True	xeroderma pigmentosum	Inferred relationship	Some
Xeroderma pigmentosum, group G	est un(e) (attribut)	True	xeroderma pigmentosum	Inferred relationship	Some
Xeroderma pigmentosum, group F	est un(e) (attribut)	True	xeroderma pigmentosum	Inferred relationship	Some
Xeroderma pigmentosum, group A	est un(e) (attribut)	True	xeroderma pigmentosum	Inferred relationship	Some
Xeroderma pigmentosum, group B	est un(e) (attribut)	True	xeroderma pigmentosum	Inferred relationship	Some
Xeroderma pigmentosum, group E (disorder)	est un(e) (attribut)	True	xeroderma pigmentosum	Inferred relationship	Some
Xeroderma pigmentosum, group D	est un(e) (attribut)	True	xeroderma pigmentosum	Inferred relationship	Some
Disorder of central nervous system due to xeroderma pigmentosum	est un(e) (attribut)	False	xeroderma pigmentosum	Inferred relationship	Some
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder)	Due to	False	xeroderma pigmentosum	Inferred relationship	Some
Disorder of central nervous system due to xeroderma pigmentosum	Due to	True	xeroderma pigmentosum	Inferred relationship	Some	1
Non-neurologic xeroderma pigmentosum	est un(e) (attribut)	True	xeroderma pigmentosum	Inferred relationship	Some
variant du xeroderma pigmentosum	est un(e) (attribut)	True	xeroderma pigmentosum	Inferred relationship	Some
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	est un(e) (attribut)	True	xeroderma pigmentosum	Inferred relationship	Some
De Sanctis-Cacchione syndrome	est un(e) (attribut)	False	xeroderma pigmentosum	Inferred relationship	Some

Reference Sets

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

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
100511000077118	xeroderma pigmentosum	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
1230113019	XP - Xeroderma pigmentosum	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
371761000077118	xeroderma pigmentosum (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
74400012	Xeroderma pigmentosum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
74402016	Xeroderma of Kaposi	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
74403014	Melanosis lenticularis progressiva	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
74404015	Kaposi dermatosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
74405019	Pigmented epitheliomatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
74406018	Atrophoderma pigmentosum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
74407010	Angioma pigmentosum atrophicum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
781746011	Xeroderma pigmentosum (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
927431000172113	XP - Xeroderma pigmentosum	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)