88877002: variante vorm van xeroderma pigmentosum (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\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, variant form
\Skin AND/OR mucosa finding (finding)\Skin finding\Finding of moistness of skin\Xeroderma\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Xeroderma\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form

\General finding of soft tissue\Skin finding\Finding of moistness of skin\Xeroderma\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Xeroderma\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Xeroderma\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Xeroderma\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Integumentary system finding\Skin finding\Finding of moistness of skin\Xeroderma\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Xeroderma\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form

\Disease\Genetic disease\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Skin deposits\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Disease\Disorder of body system\Skin or mucosa lesion\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, variant form
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Xeroderma\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Disease\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Xeroderma\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Disease\Developmental disorder\Developmental hereditary disorder\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form

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, variant form	Is a	Xeroderma pigmentosum	true	Inferred relationship	Some
Xeroderma pigmentosum, variant form	Finding site	Skin structure	false	Inferred relationship	Some	1
Xeroderma pigmentosum, variant form	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	2
Xeroderma pigmentosum, variant form	Finding site	Skin structure	false	Inferred relationship	Some	2
Xeroderma pigmentosum, variant form	Occurrence	Congenital	false	Inferred relationship	Some
Xeroderma pigmentosum, variant form	Associated morphology	Pigment deposition	false	Inferred relationship	Some	1
Xeroderma pigmentosum, variant form	Associated morphology	Atrophy	false	Inferred relationship	Some	4
Xeroderma pigmentosum, variant form	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Xeroderma pigmentosum, variant form	Finding site	Skin structure	false	Inferred relationship	Some	2
Xeroderma pigmentosum, variant form	Finding site	Skin structure	false	Inferred relationship	Some	2
Xeroderma pigmentosum, variant form	Finding site	Skin structure	false	Inferred relationship	Some	1
Xeroderma pigmentosum, variant form	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Some
Xeroderma pigmentosum, variant form	Associated morphology	Papulovesicular rash	false	Inferred relationship	Some	1
Xeroderma pigmentosum, variant form	Finding site	Skin structure	false	Inferred relationship	Some	1
Xeroderma pigmentosum, variant form	Finding site	Skin structure	false	Inferred relationship	Some	2
Xeroderma pigmentosum, variant form	Finding site	Skin structure	true	Inferred relationship	Some	3
Xeroderma pigmentosum, variant form	Finding site	Skin structure	false	Inferred relationship	Some	4
Xeroderma pigmentosum, variant form	Finding site	Skin structure	false	Inferred relationship	Some	1
Xeroderma pigmentosum, variant form	Finding site	Structure of skin region	false	Inferred relationship	Some
Xeroderma pigmentosum, variant form	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Xeroderma pigmentosum, variant form	Finding site	Skin structure	false	Inferred relationship	Some	1
Xeroderma pigmentosum, variant form	Associated morphology	Pigment deposition	false	Inferred relationship	Some	1
Xeroderma pigmentosum, variant form	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Xeroderma pigmentosum, variant form	Associated morphology	Pigment deposition	true	Inferred relationship	Some	3
Xeroderma pigmentosum, variant form	Has interpretation	Abnormal	false	Inferred relationship	Some	1
Xeroderma pigmentosum, variant form	Interprets	Keratinization	false	Inferred relationship	Some	1
Xeroderma pigmentosum, variant form	Interprets	Moistness of skin	false	Inferred relationship	Some	4
Xeroderma pigmentosum, variant form	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Xeroderma pigmentosum, variant form	Interprets	Moistness of skin	true	Inferred relationship	Some	1
Xeroderma pigmentosum, variant form	Has interpretation	Decreased	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

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US English

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Id	Description	Lang	Type	Status	Case?	Module
147363011	Xeroderma pigmentosum, variant form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
831652015	Xeroderma pigmentosum, variant form (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1235388013	Xeroderma pigmentosum XP variant	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5145538017	Pigmented xerodermoid	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7087661000146114	variante vorm van xeroderma pigmentosa (aandoening)	nl	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7087671000146115	variante vorm van xeroderma pigmentosa	nl	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13633671000146119	XPV	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13633681000146117	variante vorm van xeroderma pigmentosum	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13633691000146115	variante vorm van xeroderma pigmentosum (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)