733028000: Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Skin AND/OR mucosa finding\Skin finding\...
• \Rough skin\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Central nervous system finding\Disorder of the central nervous system\...
• \Congenital anomaly of central nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Degenerative disease of the central nervous system\Demyelinating disease of central nervous system\Multiple sclerosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Inflammatory disease of the central nervous system\Multiple sclerosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Functional finding\Disorder of haemostatic system\Blood coagulation disorder\Coagulation factor deficiency syndrome\Hereditary coagulation factor deficiency\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Functional finding\Abnormal keratinisation\Rough skin\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Functional finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Integumentary system finding\Abnormal keratinisation\Rough skin\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Genetic disease\Hereditary disease\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\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary coagulation factor deficiency\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Disorder of immune function\Hereditary disorder of immune system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Disorder of immune function\Multiple sclerosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Degenerative disorder\Congenital degeneration of nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Demyelinating disease of central nervous system\Multiple sclerosis\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\Disorder of body system\Inflammation of specific body systems\Inflammatory disease of the central nervous system\Multiple sclerosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Demyelinating disease of central nervous system\Multiple sclerosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Inflammatory disease of the central nervous system\Multiple sclerosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disease of the central nervous system\Multiple sclerosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome

Status: current, Primitive. 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	Active	Initial character case insensitive	SNOMED CT core
3498600014	Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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