719819004: Xeroderma pigmentosum and Cockayne syndrome complex (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 and Cockayne syndrome complex (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Finding of moistness of skin\Xeroderma\Xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\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 and Cockayne syndrome complex (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Xeroderma\Xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)

\General finding of soft tissue\Skin finding\Finding of moistness of skin\Xeroderma\Xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\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 and Cockayne syndrome complex (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Xeroderma\Xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\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\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\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\Xeroderma pigmentosum and Cockayne syndrome complex (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 (disorder)\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (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\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)

\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Cockayne syndrome\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)

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

\Disease\Genetic disease\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Cockayne syndrome\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Cockayne syndrome\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cockayne syndrome\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with senile-like appearance\Cockayne syndrome\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Cockayne syndrome\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Skin deposits\Xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Cockayne syndrome\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\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 and Cockayne syndrome complex (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\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\Xeroderma pigmentosum and Cockayne syndrome complex (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 (disorder)\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\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 and Cockayne syndrome complex (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Cockayne syndrome\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Cockayne syndrome\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Cockayne syndrome\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\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\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\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 and Cockayne syndrome complex (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Xeroderma\Xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Cockayne syndrome\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with senile-like appearance\Cockayne syndrome\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Cockayne syndrome\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3318026011 Xeroderma pigmentosum and Cockayne syndrome complex (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3318028012 Xeroderma pigmentosum and Cockayne syndrome complex en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3318027019 Syndrome complex that has characteristics of the cutaneous features of xeroderma pigmentosum together with the systemic and neurological features of Cockayne syndrome. Less than 30 cases have been described to date. The disease manifests during infancy. Patients present with cutaneous UV-sensitive lesions that generally develop into skin cancer and also develop characteristic Cockayne syndrome manifestations such as microcephaly, hydrocephalus, cachexia, premature ageing, dwarfism, skin atrophy, arteriosclerosis, progressive hearing loss, cognitive deficit, spasticity, ataxia, pigmentary retinopathy and optic atrophy. Affected individuals have mutations in one of three XP genes: ERCC3 (2q21), ERCC2 (19q13.3), or ERCC5 (13q22-q34). Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Is a	Cockayne syndrome	true	Inferred relationship	Some
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Is a	Xeroderma pigmentosum	true	Inferred relationship	Some
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Is a	Neuropathy (disorder)	false	Inferred relationship	Some
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Some
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	6
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	6
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	4
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Finding site	Central nervous system tract structure	false	Inferred relationship	Some	4
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	5
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Associated morphology	Pigment deposition	false	Inferred relationship	Some	5
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Has interpretation	Abnormal	false	Inferred relationship	Some	3
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Interprets	Keratinization	false	Inferred relationship	Some	3
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Interprets	Moistness of skin	false	Inferred relationship	Some	4
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Associated morphology	Pigment deposition	true	Inferred relationship	Some	2
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	2
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Finding site	Central nervous system tract structure	true	Inferred relationship	Some	1
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Interprets	Moistness of skin	true	Inferred relationship	Some	3
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Has interpretation	Decreased	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
3318026011	Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3318028012	Xeroderma pigmentosum and Cockayne syndrome complex	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3318027019	Syndrome complex that has characteristics of the cutaneous features of xeroderma pigmentosum together with the systemic and neurological features of Cockayne syndrome. Less than 30 cases have been described to date. The disease manifests during infancy. Patients present with cutaneous UV-sensitive lesions that generally develop into skin cancer and also develop characteristic Cockayne syndrome manifestations such as microcephaly, hydrocephalus, cachexia, premature ageing, dwarfism, skin atrophy, arteriosclerosis, progressive hearing loss, cognitive deficit, spasticity, ataxia, pigmentary retinopathy and optic atrophy. Affected individuals have mutations in one of three XP genes: ERCC3 (2q21), ERCC2 (19q13.3), or ERCC5 (13q22-q34). Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core