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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
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
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 Some
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 true Inferred relationship Some
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 (disorder) false Inferred relationship Some
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 Some
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 Some 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 Some 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 Some 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 Some 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 Some 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 Some 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 Pigment deposition false Inferred relationship Some 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 Some 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 Keratinization false Inferred relationship Some 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 Some 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 Pigment deposition true Inferred relationship Some 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 Some 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 true Inferred relationship Some 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 Some 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 Some 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 true Inferred relationship Some 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 Some 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 Some 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 Some 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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