56048001: Xeroderma pigmentosum, group E (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\Xeroderma pigmentosum, group E
\Skin AND/OR mucosa finding\Skin finding\Finding of moistness of skin\Xeroderma\Xeroderma pigmentosum\Xeroderma pigmentosum, group E
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Degenerative skin disorder\Skin deposits\Xeroderma pigmentosum\Xeroderma pigmentosum, group E
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Xeroderma pigmentosum\Xeroderma pigmentosum, group E
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Xeroderma\Xeroderma pigmentosum\Xeroderma pigmentosum, group E

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

93232014 Xeroderma pigmentosum, group E en Synonym Active Only initial character case insensitive SNOMED CT core module

794517016 Xeroderma pigmentosum, group E (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

1231558012 Xeroderma pigmentosum group E en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Xeroderma pigmentosum, group E	Is a	Xeroderma pigmentosum	true	Inferred relationship	Existential restriction modifier
Xeroderma pigmentosum, group E	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Xeroderma pigmentosum, group E	Associated morphology	Atrophy	false	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, group E	Associated morphology	Structure showing abnormal deposition of pigment	false	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, group E	Associated morphology	Degeneration	false	Inferred relationship	Existential restriction modifier	2
Xeroderma pigmentosum, group E	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Xeroderma pigmentosum, group E	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Xeroderma pigmentosum, group E	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, group E	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, group E	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, group E	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	3
Xeroderma pigmentosum, group E	Associated morphology	Papulovesicular rash	false	Inferred relationship	Existential restriction modifier	3
Xeroderma pigmentosum, group E	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Existential restriction modifier
Xeroderma pigmentosum, group E	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, group E	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, group E	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, group E	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	3
Xeroderma pigmentosum, group E	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	4
Xeroderma pigmentosum, group E	Finding site	Structure of skin region	false	Inferred relationship	Existential restriction modifier
Xeroderma pigmentosum, group E	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, group E	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, group E	Associated morphology	Structure showing abnormal deposition of pigment	false	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, group E	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Xeroderma pigmentosum, group E	Associated morphology	Structure showing abnormal deposition of pigment	true	Inferred relationship	Existential restriction modifier	3
Xeroderma pigmentosum, group E	Has interpretation	Abnormal	false	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, group E	Interprets	Keratinization, function	false	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, group E	Interprets	Moistness of skin	false	Inferred relationship	Existential restriction modifier	4
Xeroderma pigmentosum, group E	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Xeroderma pigmentosum, group E	Interprets	Moistness of skin	true	Inferred relationship	Existential restriction modifier	1
Xeroderma pigmentosum, group E	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	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
93232014	Xeroderma pigmentosum, group E	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
794517016	Xeroderma pigmentosum, group E (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
1231558012	Xeroderma pigmentosum group E	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module