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

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\Rough skin (finding)\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome

\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
\Disorder of skin (disorder)\Chronic disease of skin\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome

\General finding of soft tissue\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\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 (disorder)\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\Disorder of skin (disorder)\Chronic disease of skin\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\Chronic disease of skin\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome

\Central nervous system finding\Disorder of the central nervous system (disorder)\...

\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 hemostatic system\Blood coagulation disorder\Coagulation factor deficiency syndrome\Hereditary coagulation factor deficiency\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
\Functional finding\Abnormal keratinization\Rough skin (finding)\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
\Functional finding\Abnormal keratinization\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 involving the integument of fetus OR newborn\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\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\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)\Disorder of skin (disorder)\Chronic disease of skin\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
\Integumentary system finding\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Chronic disease of skin\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
\Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Congenital ichthyosis of skin\Lamellar ichthyosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
\Integumentary system finding\Abnormal keratinization\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 (disorder)\Chronic disease of immune function (disorder)\Multiple sclerosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis\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 hemostatic 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 involving the integument of fetus OR newborn\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\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\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\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Chronic disease of skin\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
\Disease\Disorder of body system\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\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Multiple sclerosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
\Disease\Disorder of body system\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\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\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\Disorder of nervous system (disorder)\Disorder of the central nervous system (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 body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\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\Chronic disease\Chronic disease of immune function (disorder)\Multiple sclerosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Multiple sclerosis\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
\Disease\Chronic disease\Chronic disease of skin\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\Chronic disease of skin\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 malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis\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

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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Is a	Hereditary coagulation factor deficiency	true	Inferred relationship	Some
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Is a	Multiple sclerosis	true	Inferred relationship	Some
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Is a	Lamellar ichthyosis	true	Inferred relationship	Some
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Occurrence	Infancy	false	Inferred relationship	Some
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Occurrence	Fetal or neonatal period	false	Inferred relationship	Some
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Finding site	Skin structure	false	Inferred relationship	Some	6
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Associated morphology	Demyelination	true	Inferred relationship	Some	5
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	5
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Finding site	Skin structure	false	Inferred relationship	Some	7
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	6
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Associated morphology	Hyperkeratosis	false	Inferred relationship	Some	7
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Is a	Acquired coagulation factor deficiency	false	Inferred relationship	Some
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Is a	Congenital anomaly of central nervous system	true	Inferred relationship	Some
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Associated morphology	Demyelination	true	Inferred relationship	Some	1
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	1
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Associated morphology	Proliferative hyperkeratosis	true	Inferred relationship	Some	2
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	3
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Interprets	Hemostatic function	true	Inferred relationship	Some	3
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	4
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Interprets	Keratinization	true	Inferred relationship	Some	4
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Finding site	Entire skin	true	Inferred relationship	Some	2
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	6
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	5
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Is a	Congenital degeneration of nervous system	true	Inferred relationship	Some
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	6
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	6
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Is a	Chronic disease of skin	true	Inferred relationship	Some
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Clinical course	Chronic	true	Inferred relationship	Some	7

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
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