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

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

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

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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Xeroderma pigmentosum, group A	Is a	Xeroderma pigmentosum	true	Inferred relationship	Some
Xeroderma pigmentosum, group A	Finding site	Skin structure	false	Inferred relationship	Some	3
Xeroderma pigmentosum, group A	Occurrence	Congenital	false	Inferred relationship	Some
Xeroderma pigmentosum, group A	Associated morphology	Pigment deposition	false	Inferred relationship	Some	1
Xeroderma pigmentosum, group A	Associated morphology	Atrophy	false	Inferred relationship	Some	3
Xeroderma pigmentosum, group A	Finding site	Skin structure	false	Inferred relationship	Some	2
Xeroderma pigmentosum, group A	Associated morphology	Degeneration	false	Inferred relationship	Some	2
Xeroderma pigmentosum, group A	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Xeroderma pigmentosum, group A	Finding site	Skin structure	false	Inferred relationship	Some	2
Xeroderma pigmentosum, group A	Finding site	Skin structure	false	Inferred relationship	Some	1
Xeroderma pigmentosum, group A	Finding site	Skin structure	false	Inferred relationship	Some	2
Xeroderma pigmentosum, group A	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Some
Xeroderma pigmentosum, group A	Associated morphology	Papulovesicular rash	false	Inferred relationship	Some	4
Xeroderma pigmentosum, group A	Finding site	Skin structure	false	Inferred relationship	Some	1
Xeroderma pigmentosum, group A	Finding site	Skin structure	false	Inferred relationship	Some	2
Xeroderma pigmentosum, group A	Finding site	Skin structure	true	Inferred relationship	Some	3
Xeroderma pigmentosum, group A	Finding site	Skin structure	false	Inferred relationship	Some	4
Xeroderma pigmentosum, group A	Finding site	Skin structure	false	Inferred relationship	Some	1
Xeroderma pigmentosum, group A	Finding site	Structure of skin region	false	Inferred relationship	Some
Xeroderma pigmentosum, group A	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Xeroderma pigmentosum, group A	Associated morphology	Pigment deposition	false	Inferred relationship	Some	1
Xeroderma pigmentosum, group A	Finding site	Skin structure	false	Inferred relationship	Some	1
Xeroderma pigmentosum, group A	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Xeroderma pigmentosum, group A	Associated morphology	Pigment deposition	true	Inferred relationship	Some	3
Xeroderma pigmentosum, group A	Has interpretation	Abnormal	false	Inferred relationship	Some	1
Xeroderma pigmentosum, group A	Interprets	Keratinization	false	Inferred relationship	Some	1
Xeroderma pigmentosum, group A	Interprets	Moistness of skin	false	Inferred relationship	Some	4
Xeroderma pigmentosum, group A	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Xeroderma pigmentosum, group A	Interprets	Moistness of skin	true	Inferred relationship	Some	1
Xeroderma pigmentosum, group A	Has interpretation	Decreased	true	Inferred relationship	Some	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