719819004: complexe Xeroderma pigmentosum-syndrome de Cockayne (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\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\Dry skin\xérodermie (trouble)\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Degenerative skin disorder (disorder)\dépôts cutanés\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\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\affection de la peau (trouble)\xérodermie (trouble)\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \constatation générale à propos des tissus mous\Skin finding\Finding of moistness of skin\Dry skin\xérodermie (trouble)\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Degenerative skin disorder (disorder)\dépôts cutanés\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\xérodermie (trouble)\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\dépôts cutanés\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\xérodermie (trouble)\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Cockayne syndrome\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \constatation fonctionnelle\Abnormal keratinisation\Disorder of keratinisation\...
• \Inherited disorder of keratinization\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \xérodermie (trouble)\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\xérodermie (trouble)\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\dépôts cutanés\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\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\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\xérodermie (trouble)\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Integumentary system finding\Skin finding\Finding of moistness of skin\Dry skin\xérodermie (trouble)\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Degenerative skin disorder (disorder)\dépôts cutanés\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\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\affection de la peau (trouble)\xérodermie (trouble)\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\xérodermie (trouble)\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\Genetic disease\maladie héréditaire\syndrome familial avec prédisposition aux cancers (trouble)\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\Genetic disease\maladie héréditaire\syndrome familial avec prédisposition aux cancers (trouble)\Cockayne syndrome\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Cockayne syndrome\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Cockayne syndrome\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\affection dégénérative\Degenerative skin disorder (disorder)\dépôts cutanés\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Cockayne syndrome\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\xérodermie (trouble)\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\dépôts cutanés\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\xérodermie (trouble)\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Cockayne syndrome\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\affection d'un système corporel\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\affection d'un système corporel\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\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with senile-like appearance\Cockayne syndrome\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Cockayne syndrome\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\Disorder of soft tissue\lésion de tissu mou\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\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\dépôts cutanés\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\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\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\xérodermie (trouble)\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\xeroderma pigmentosum\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Cockayne syndrome\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with senile-like appearance\Cockayne syndrome\Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
• \Disease\trouble du développement\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
754911000241116	complexe Xeroderma pigmentosum-syndrome de Cockayne (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
877071000172114	complexe Xeroderma pigmentosum-syndrome de Cockayne	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
931481000172116	complexe XP/CS (Xeroderma pigmentosum/Cockayne syndrome)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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

Reference Sets

Canada English language reference set (foundation metadata concept)

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