44600005: Xeroderma pigmentosum (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
\Skin AND/OR mucosa finding (finding)\Skin finding\Finding of moistness of skin\Xeroderma\Xeroderma pigmentosum
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Xeroderma pigmentosum
\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
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Xeroderma\Xeroderma pigmentosum

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

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

\Disease\Genetic disease\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum
\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Xeroderma pigmentosum
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Xeroderma pigmentosum
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Xeroderma pigmentosum
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Xeroderma pigmentosum
\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Skin deposits\Xeroderma pigmentosum
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Xeroderma pigmentosum
\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
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Xeroderma pigmentosum
\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
\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
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Xeroderma\Xeroderma pigmentosum
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum
\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
\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
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Xeroderma\Xeroderma pigmentosum
\Disease\Developmental disorder\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	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Xeroderma pigmentosum	Is a	Atrophic condition of skin	false	Inferred relationship	Some
Xeroderma pigmentosum	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Xeroderma pigmentosum	Is a	Genodermatosis	false	Inferred relationship	Some
Xeroderma pigmentosum	Finding site	Skin structure	false	Inferred relationship	Some	2
Xeroderma pigmentosum	Finding site	Skin structure	false	Inferred relationship	Some	2
Xeroderma pigmentosum	Associated morphology	Pigment deposition	false	Inferred relationship	Some	1
Xeroderma pigmentosum	Associated morphology	Atrophy	false	Inferred relationship	Some	4
Xeroderma pigmentosum	Occurrence	Congenital	false	Inferred relationship	Some
Xeroderma pigmentosum	Associated morphology	Degeneration	false	Inferred relationship	Some	2
Xeroderma pigmentosum	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Xeroderma pigmentosum	Finding site	Skin structure	false	Inferred relationship	Some	2
Xeroderma pigmentosum	Finding site	Skin structure	false	Inferred relationship	Some	2
Xeroderma pigmentosum	Finding site	Skin structure	false	Inferred relationship	Some	1
Xeroderma pigmentosum	Is a	Atrophic condition of skin (disorder)	false	Inferred relationship	Some
Xeroderma pigmentosum	Is a	Xeroderma	true	Inferred relationship	Some
Xeroderma pigmentosum	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Some
Xeroderma pigmentosum	Associated morphology	Papulovesicular rash	false	Inferred relationship	Some	1
Xeroderma pigmentosum	Finding site	Skin structure	false	Inferred relationship	Some	1
Xeroderma pigmentosum	Finding site	Skin structure	false	Inferred relationship	Some	3
Xeroderma pigmentosum	Finding site	Skin structure	true	Inferred relationship	Some	3
Xeroderma pigmentosum	Finding site	Skin structure	false	Inferred relationship	Some	1
Xeroderma pigmentosum	Finding site	Skin structure	false	Inferred relationship	Some	4
Xeroderma pigmentosum	Is a	Disorder of skin pigmentation (disorder)	false	Inferred relationship	Some
Xeroderma pigmentosum	Finding site	Structure of skin region	false	Inferred relationship	Some
Xeroderma pigmentosum	Is a	Degenerative disorder	false	Inferred relationship	Some
Xeroderma pigmentosum	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Xeroderma pigmentosum	Associated morphology	Pigment deposition	false	Inferred relationship	Some	1
Xeroderma pigmentosum	Finding site	Skin structure	false	Inferred relationship	Some	1
Xeroderma pigmentosum	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Some
Xeroderma pigmentosum	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Xeroderma pigmentosum	Associated morphology	Pigment deposition	true	Inferred relationship	Some	3
Xeroderma pigmentosum	Is a	Genetic disorder of skin pigmentation (disorder)	true	Inferred relationship	Some
Xeroderma pigmentosum	Has interpretation	Abnormal	false	Inferred relationship	Some	1
Xeroderma pigmentosum	Interprets	Keratinization	false	Inferred relationship	Some	1
Xeroderma pigmentosum	Interprets	Moistness of skin	false	Inferred relationship	Some	4
Xeroderma pigmentosum	Is a	Keratosis	false	Inferred relationship	Some
Xeroderma pigmentosum	Is a	Inherited disorder of keratinisation	false	Inferred relationship	Some
Xeroderma pigmentosum	Is a	Skin deposits	true	Inferred relationship	Some
Xeroderma pigmentosum	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Xeroderma pigmentosum	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Xeroderma pigmentosum	Interprets	Moistness of skin	true	Inferred relationship	Some	2
Xeroderma pigmentosum	Has interpretation	Decreased	true	Inferred relationship	Some	2

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

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
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
1230113019	XP - Xeroderma pigmentosum	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
927431000172113	XP - Xeroderma pigmentosum	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
943351000172119	Xeroderma pigmentosum	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
869061000172118	XP - xeroderma pigmentosum	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
945931000172113	xeroderma pigmentosum	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)