88877002: Xeroderma pigmentosum, variant form (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Skin AND/OR mucosa finding\Skin finding\Finding of moistness of skin\Xeroderma\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Degenerative skin disorder\Skin deposits\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\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\Degenerative skin disorder\Skin deposits\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\General finding of soft tissue\Skin finding\Disorder of skin\Xeroderma\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin 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 of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\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 of skin\Degenerative skin disorder\Skin deposits\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\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\Degenerative skin disorder\Skin deposits\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Integumentary system finding\Skin finding\Disorder of skin\Xeroderma\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form

\Disease\Genetic disease\Genetic disorder of skin pigmentation\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 of skin pigmentation\Genetic disorder of skin pigmentation\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Disease\Degenerative disorder\Degenerative skin 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\Genetic disorder of skin pigmentation\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 of skin\Degenerative skin 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 of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Xeroderma\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Skin deposits\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Xeroderma pigmentosum\Xeroderma pigmentosum, variant form
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

147363011 Xeroderma pigmentosum, variant form en Synonym Active Entire term case insensitive SNOMED CT core module
831652015 Xeroderma pigmentosum, variant form (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1235388013 Xeroderma pigmentosum XP variant en Synonym Active Only initial character case insensitive SNOMED CT core module
5145538017 Pigmented xerodermoid en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Xeroderma pigmentosum, variant form	Is a	Xeroderma pigmentosum	true	Inferred relationship	Existential restriction modifier
Xeroderma pigmentosum, variant form	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, variant form	Associated morphology	Degeneration	false	Inferred relationship	Existential restriction modifier	2
Xeroderma pigmentosum, variant form	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Xeroderma pigmentosum, variant form	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Xeroderma pigmentosum, variant form	Associated morphology	Structure showing abnormal deposition of pigment	false	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, variant form	Associated morphology	Atrophy	false	Inferred relationship	Existential restriction modifier	4
Xeroderma pigmentosum, variant form	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, variant form	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Xeroderma pigmentosum, variant form	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Xeroderma pigmentosum, variant form	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, variant form	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Existential restriction modifier
Xeroderma pigmentosum, variant form	Associated morphology	Papulovesicular rash	false	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, variant form	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, variant form	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Xeroderma pigmentosum, variant form	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	3
Xeroderma pigmentosum, variant form	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	4
Xeroderma pigmentosum, variant form	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, variant form	Finding site	Structure of skin region	false	Inferred relationship	Existential restriction modifier
Xeroderma pigmentosum, variant form	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, variant form	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, variant form	Associated morphology	Structure showing abnormal deposition of pigment	false	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, variant form	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Xeroderma pigmentosum, variant form	Associated morphology	Structure showing abnormal deposition of pigment	true	Inferred relationship	Existential restriction modifier	3
Xeroderma pigmentosum, variant form	Has interpretation	Abnormal	false	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, variant form	Interprets	Keratinization, function	false	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, variant form	Interprets	Moistness of skin	false	Inferred relationship	Existential restriction modifier	4
Xeroderma pigmentosum, variant form	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Xeroderma pigmentosum, variant form	Interprets	Moistness of skin	true	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, variant form	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
147363011	Xeroderma pigmentosum, variant form	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
831652015	Xeroderma pigmentosum, variant form (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1235388013	Xeroderma pigmentosum XP variant	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
5145538017	Pigmented xerodermoid	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module