43477006: Xeroderma pigmentosum, group A (disorder)

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 (disorder)\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\Skin AND/OR mucosa finding (finding)\Skin finding\Finding of moistness of skin\Xeroderma\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Xeroderma\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin deposits (disorder)\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A

\General finding of soft tissue\Skin finding\Finding of moistness of skin\Xeroderma\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Xeroderma\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin deposits (disorder)\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\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\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Xeroderma\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin deposits (disorder)\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Xeroderma\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin deposits (disorder)\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\Integumentary system finding\Skin finding\Finding of moistness of skin\Xeroderma\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Xeroderma\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin deposits (disorder)\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A

\Disease\Genetic disease\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\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\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Xeroderma\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin deposits (disorder)\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Xeroderma\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin deposits (disorder)\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Xeroderma pigmentosum (disorder)\Xeroderma pigmentosum, group A

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, group A	Is a	Xeroderma pigmentosum (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum, group A	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Xeroderma pigmentosum, group A	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum, group A	Associated morphology	Structure showing abnormal deposition of pigment (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Xeroderma pigmentosum, group A	Associated morphology	Atrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Xeroderma pigmentosum, group A	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Xeroderma pigmentosum, group A	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Xeroderma pigmentosum, group A	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Xeroderma pigmentosum, group A	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Xeroderma pigmentosum, group A	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Xeroderma pigmentosum, group A	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Xeroderma pigmentosum, group A	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum, group A	Associated morphology	Papulovesicular rash	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Xeroderma pigmentosum, group A	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Xeroderma pigmentosum, group A	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Xeroderma pigmentosum, group A	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Xeroderma pigmentosum, group A	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Xeroderma pigmentosum, group A	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Xeroderma pigmentosum, group A	Finding site	Structure of skin region (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum, group A	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Xeroderma pigmentosum, group A	Associated morphology	Structure showing abnormal deposition of pigment (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Xeroderma pigmentosum, group A	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Xeroderma pigmentosum, group A	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Xeroderma pigmentosum, group A	Associated morphology	Structure showing abnormal deposition of pigment (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Xeroderma pigmentosum, group A	Has interpretation	Abnormal	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Xeroderma pigmentosum, group A	Interprets	Keratinisation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Xeroderma pigmentosum, group A	Interprets	Moistness of skin (observable entity)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Xeroderma pigmentosum, group A	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Xeroderma pigmentosum, group A	Interprets	Moistness of skin (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Xeroderma pigmentosum, group A	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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
72518014	Xeroderma pigmentosum, group A	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
780493014	Xeroderma pigmentosum, group A (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1229993016	Xeroderma pigmentosum group A	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
72518014	Xeroderma pigmentosum, group A	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
780493014	Xeroderma pigmentosum, group A (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1229993016	Xeroderma pigmentosum group A	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4531661000241118	xeroderma pigmentosum, groupe A	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4531661000241118	xeroderma pigmentosum, groupe A	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module