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

\General finding of soft tissue\Skin finding\Finding of moistness of skin\Xeroderma\Xeroderma pigmentosum (disorder)
\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)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Xeroderma\Xeroderma pigmentosum (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin deposits (disorder)\Xeroderma pigmentosum (disorder)
\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)
\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)
\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)
\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)

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

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

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 (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum (disorder)	Is a	Atrophic condition of skin	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum (disorder)	Is a	Hereditary disorder of the integument (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum (disorder)	Is a	Genodermatosis	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Xeroderma pigmentosum (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Xeroderma pigmentosum (disorder)	Associated morphology	Structure showing abnormal deposition of pigment (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Xeroderma pigmentosum (disorder)	Associated morphology	Atrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Xeroderma pigmentosum (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum (disorder)	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Xeroderma pigmentosum (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Xeroderma pigmentosum (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Xeroderma pigmentosum (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Xeroderma pigmentosum (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Xeroderma pigmentosum (disorder)	Is a	Atrophic condition of skin (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum (disorder)	Is a	Xeroderma	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum (disorder)	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum (disorder)	Associated morphology	Papulovesicular rash	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Xeroderma pigmentosum (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Xeroderma pigmentosum (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Xeroderma pigmentosum (disorder)	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Xeroderma pigmentosum (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Xeroderma pigmentosum (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Xeroderma pigmentosum (disorder)	Is a	Disorder of skin pigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum (disorder)	Finding site	Structure of skin region (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum (disorder)	Is a	Degenerative disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Xeroderma pigmentosum (disorder)	Associated morphology	Structure showing abnormal deposition of pigment (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Xeroderma pigmentosum (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Xeroderma pigmentosum (disorder)	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Xeroderma pigmentosum (disorder)	Associated morphology	Structure showing abnormal deposition of pigment (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Xeroderma pigmentosum (disorder)	Is a	Genetic disorder of skin pigmentation (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum (disorder)	Has interpretation	Abnormal	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Xeroderma pigmentosum (disorder)	Interprets	Keratinisation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Xeroderma pigmentosum (disorder)	Interprets	Moistness of skin (observable entity)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Xeroderma pigmentosum (disorder)	Is a	Keratosis (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum (disorder)	Is a	Inherited disorder of keratinisation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum (disorder)	Is a	Skin deposits (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Xeroderma pigmentosum (disorder)	Interprets	Moistness of skin (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Xeroderma pigmentosum (disorder)	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Xeroderma pigmentosum, group B	Is a	True	Xeroderma pigmentosum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
De Sanctis-Cacchione syndrome	Is a	False	Xeroderma pigmentosum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Pigmented xerodermoid	Is a	False	Xeroderma pigmentosum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum, group C (disorder)	Is a	True	Xeroderma pigmentosum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum, group G	Is a	True	Xeroderma pigmentosum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum, group F	Is a	True	Xeroderma pigmentosum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum, group A	Is a	True	Xeroderma pigmentosum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum, group E (disorder)	Is a	True	Xeroderma pigmentosum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum, group D	Is a	True	Xeroderma pigmentosum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of central nervous system due to xeroderma pigmentosum (disorder)	Is a	False	Xeroderma pigmentosum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Non-neurologic xeroderma pigmentosum	Is a	True	Xeroderma pigmentosum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum, variant form	Is a	True	Xeroderma pigmentosum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa	Due to	False	Xeroderma pigmentosum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of central nervous system due to xeroderma pigmentosum (disorder)	Due to	True	Xeroderma pigmentosum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome.	Is a	True	Xeroderma pigmentosum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

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
74400012	Xeroderma pigmentosum	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	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	Only initial character case insensitive (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	Only initial character 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	Only initial character 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	Only initial character 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	Only initial character 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
3450331001000110	Xeroderma pigmentosum	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
100511000077118	xeroderma pigmentosum	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
927431000172113	XP - Xeroderma pigmentosum	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
100511000077118	xeroderma pigmentosum	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
927431000172113	XP - Xeroderma pigmentosum	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3450331001000110	Xeroderma pigmentosum	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module