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719819004: 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
5402231017 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402232012 Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterised by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5402231017 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402232012 Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterised by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3382401001000114 Xeroderma pigmentosum/Cockayne-Syndrom-Komplex de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
877071000172114 complexe Xeroderma pigmentosum-syndrome de Cockayne fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
931481000172116 complexe XP/CS (Xeroderma pigmentosum/Cockayne syndrome) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
877071000172114 complexe Xeroderma pigmentosum-syndrome de Cockayne fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
931481000172116 complexe XP/CS (Xeroderma pigmentosum/Cockayne syndrome) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3382401001000114 Xeroderma pigmentosum/Cockayne-Syndrom-Komplex de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
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 Cockayne syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
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 Xeroderma pigmentosum (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
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 Neuropathy false Inferred relationship Existential restriction modifier (core metadata concept)
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. Has definitional manifestation Abnormal keratinization false Inferred relationship Existential restriction modifier (core metadata concept)
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. Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
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. Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
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. Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
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. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
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. Finding site Central nervous system tract structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
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. Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
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. Associated morphology Structure showing abnormal deposition of pigment (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 5
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. Has interpretation Abnormal false Inferred relationship Existential restriction modifier (core metadata concept) 3
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. Interprets Keratinisation false Inferred relationship Existential restriction modifier (core metadata concept) 3
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. Interprets Moistness of skin (observable entity) false Inferred relationship Existential restriction modifier (core metadata concept) 4
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. Associated morphology Structure showing abnormal deposition of pigment (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
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. Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
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. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
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. Occurrence Congenital true 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. Finding site Central nervous system tract structure true 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. Pathological process (attribute) Pathological developmental process (qualifier value) true 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. Associated morphology Morphologically abnormal structure true 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. Interprets Moistness of skin (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 3
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. Has interpretation Decreased true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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