44600005: Xeroderma pigmentosum (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
\Skin AND/OR mucosa finding\Skin finding\Finding of moistness of skin\Xeroderma\Xeroderma pigmentosum
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Degenerative skin disorder\Skin deposits\Xeroderma pigmentosum
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Xeroderma pigmentosum
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\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\Degenerative skin disorder\Skin deposits\Xeroderma pigmentosum
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Xeroderma pigmentosum
\General finding of soft tissue\Skin finding\Disorder of skin\Xeroderma\Xeroderma pigmentosum
\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
\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
\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
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\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 of skin\Degenerative skin disorder\Skin deposits\Xeroderma pigmentosum
\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
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Xeroderma\Xeroderma pigmentosum
\Integumentary system finding\Skin finding\Finding of moistness of skin\Xeroderma\Xeroderma pigmentosum
\Integumentary system finding\Skin finding\Disorder of skin\Degenerative skin disorder\Skin deposits\Xeroderma pigmentosum
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Xeroderma pigmentosum
\Integumentary system finding\Skin finding\Disorder of skin\Xeroderma\Xeroderma pigmentosum

\Disease\Genetic disease\Genetic disorder of skin pigmentation\Xeroderma pigmentosum
\Disease\Genetic disease\Hereditary disease\Hereditary neoplastic 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 of skin pigmentation\Genetic disorder of skin pigmentation\Xeroderma pigmentosum
\Disease\Degenerative disorder\Degenerative skin 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\Genetic disorder of skin pigmentation\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 of skin\Degenerative skin disorder\Skin deposits\Xeroderma pigmentosum
\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
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Xeroderma\Xeroderma pigmentosum
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Xeroderma pigmentosum
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Skin deposits\Xeroderma pigmentosum
\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
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Xeroderma\Xeroderma pigmentosum
\Disease\Developmental disorder\Developmental hereditary disorder\Xeroderma pigmentosum

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1230113019 XP - Xeroderma pigmentosum en Synonym Active Case sensitive SNOMED CT core
74400012 Xeroderma pigmentosum en Synonym Active Case insensitive SNOMED CT core
74401011 Xeroderma pigmentosum, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
74402016 Xeroderma of Kaposi en Synonym Active Initial character case insensitive SNOMED CT core
74403014 Melanosis lenticularis progressiva en Synonym Active Case insensitive SNOMED CT core
74404015 Kaposi dermatosis en Synonym Active Case sensitive SNOMED CT core
74405019 Pigmented epitheliomatosis en Synonym Active Case insensitive SNOMED CT core
74406018 Atrophoderma pigmentosum en Synonym Active Case insensitive SNOMED CT core
74407010 Angioma pigmentosum atrophicum en Synonym Active Case insensitive SNOMED CT core
781746011 Xeroderma pigmentosum (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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	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
Xeroderma pigmentosum	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Xeroderma pigmentosum	Finding site	Skin structure	false	Inferred relationship	Some	2
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	1
Xeroderma pigmentosum	Is a	Atrophic condition of skin	false	Inferred relationship	Some
Xeroderma pigmentosum	Is a	Xeroderma	true	Inferred relationship	Some
Xeroderma pigmentosum	Has definitional manifestation	Abnormal keratinisation	false	Inferred relationship	Some
Xeroderma pigmentosum	Associated morphology	Papulovesicular eruption	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	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 neoplastic syndrome	true	Inferred relationship	Some
Xeroderma pigmentosum	Finding site	Skin structure	false	Inferred relationship	Some	2
Xeroderma pigmentosum	Associated morphology	Developmental abnormality	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	true	Inferred relationship	Some
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	Has interpretation	Abnormal	false	Inferred relationship	Some	1
Xeroderma pigmentosum	Interprets	Keratinisation	false	Inferred relationship	Some	1
Xeroderma pigmentosum	Interprets	Moistness of skin	false	Inferred relationship	Some	4

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pigmented xerodermoid	Is a	False	Xeroderma pigmentosum	Inferred relationship	Some
Xeroderma pigmentosum, group C	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 B	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
De Sanctis-Cacchione syndrome	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
Non-neurologic xeroderma pigmentosum	Is a	True	Xeroderma pigmentosum	Inferred relationship	Some
Xeroderma pigmentosum, variant form	Is a	True	Xeroderma pigmentosum	Inferred relationship	Some
Xeroderma pigmentosum and Cockayne syndrome complex	Is a	True	Xeroderma pigmentosum	Inferred relationship	Some
De Sanctis-Cacchione syndrome	Is a	False	Xeroderma pigmentosum	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1230113019	XP - Xeroderma pigmentosum	en	Synonym	Active	Case sensitive	SNOMED CT core
74400012	Xeroderma pigmentosum	en	Synonym	Active	Case insensitive	SNOMED CT core
74401011	Xeroderma pigmentosum, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
74402016	Xeroderma of Kaposi	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
74403014	Melanosis lenticularis progressiva	en	Synonym	Active	Case insensitive	SNOMED CT core
74404015	Kaposi dermatosis	en	Synonym	Active	Case sensitive	SNOMED CT core
74405019	Pigmented epitheliomatosis	en	Synonym	Active	Case insensitive	SNOMED CT core
74406018	Atrophoderma pigmentosum	en	Synonym	Active	Case insensitive	SNOMED CT core
74407010	Angioma pigmentosum atrophicum	en	Synonym	Active	Case insensitive	SNOMED CT core
781746011	Xeroderma pigmentosum (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core