733028000: syndrome de sclérose en plaques-ichtyose-déficit en facteur VIII (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \Rough skin (finding)\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \constatation générale à propos des tissus mous\Skin finding\Rough skin (finding)\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \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)\Keratoderma\Ichthyosis\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \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)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\...
• \Congenital anomaly of central nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \maladie dégénérative du système nerveux central\Demyelinating disease of central nervous system\sclérose en plaques (trouble)\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \maladie inflammatoire du système nerveux central\sclérose en plaques (trouble)\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \constatation fonctionnelle\Disorder of haemostatic system\Blood coagulation disorder\Coagulation factor deficiency syndrome\Hereditary coagulation factor deficiency\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \constatation fonctionnelle\Abnormal keratinisation\Rough skin (finding)\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \constatation fonctionnelle\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Integumentary system finding\Skin finding\Rough skin (finding)\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Integumentary system finding\Abnormal keratinisation\Rough skin (finding)\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of immune system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary coagulation factor deficiency\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\trouble de la fonction immunitaire\Hereditary disorder of immune system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\trouble de la fonction immunitaire\sclérose en plaques (trouble)\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\affection dégénérative\Congenital degeneration of nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Demyelinating disease of central nervous system\sclérose en plaques (trouble)\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Disorder of haemostatic system\Blood coagulation disorder\Coagulation factor deficiency syndrome\Hereditary coagulation factor deficiency\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\affection d'un système corporel\Inflammation of specific body systems\maladie inflammatoire du système nerveux central\sclérose en plaques (trouble)\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of immune system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Demyelinating disease of central nervous system\sclérose en plaques (trouble)\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie inflammatoire du système nerveux central\sclérose en plaques (trouble)\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\kératose\Keratoderma\Ichthyosis\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\maladie inflammatoire du système nerveux central\sclérose en plaques (trouble)\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\ichtyose lamellaire\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3498599011	Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3498600014	Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
762771000241111	syndrome de sclérose en plaques-ichtyose-déficit en facteur VIII (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
937521000172111	syndrome de sclérose en plaques-ichtyose-déficit en facteur VIII	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3499932017	Syndrome that is characterised by the association of multiple sclerosis with lamellar ichthyosis and haematological anomalies (beta thalassaemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499933010	Syndrome that is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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