719816006: X-linked sideroblastic anemia with spinocerebellar ataxia (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\...
• \Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Anemia\Congenital anemia\X chromosome-linked sideroblastic anemia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Anemia\Sideroblastic anemia\X chromosome-linked sideroblastic anemia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Red blood cell disorder\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Finding related to coordination / incoordination (finding)\Ataxia\...
• \Hereditary ataxia (disorder)\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Cerebellar ataxia\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Procedure related finding\Evaluation finding\...
• \Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\X chromosome-linked sideroblastic anemia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\X chromosome-linked sideroblastic anemia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\X chromosome-linked sideroblastic anemia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\X chromosome-linked sideroblastic anemia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Congenital anemia\X chromosome-linked sideroblastic anemia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\X chromosome-linked sideroblastic anemia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\X chromosome-linked sideroblastic anemia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\X chromosome-linked sideroblastic anemia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\X chromosome-linked sideroblastic anemia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Finding of head and neck region\Head finding (finding)\...
• \Finding of brain\Disorder of brain (disorder)\...
• \Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disorder of head (disorder)\Disorder of brain (disorder)\...
• \Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism (disorder)\X chromosome-linked sideroblastic anemia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X chromosome-linked sideroblastic anemia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia\X chromosome-linked sideroblastic anemia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Sideroblastic anemia\X chromosome-linked sideroblastic anemia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \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\Hereditary cerebellar degeneration\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Metabolic disease\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism (disorder)\X chromosome-linked sideroblastic anemia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Metabolic disease\Disorder of porphyrin metabolism\Inherited disorder of porphyrin metabolism (disorder)\X chromosome-linked sideroblastic anemia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Congenital disease (disorder)\Congenital anemia\X chromosome-linked sideroblastic anemia\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\X-linked sideroblastic anemia with spinocerebellar ataxia

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
3318015017	X-linked sideroblastic anemia with spinocerebellar ataxia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318016016	X-linked sideroblastic anaemia with spinocerebellar ataxia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318474018	X-linked sideroblastic anemia with spinocerebellar ataxia (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318017013	A rare syndromic inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non or slowly progressive spinocerebellar ataxia. Caused by mutations in the ABCB7 gene (Xq13.3), encoding a mitochondrial ATP-binding cassette (ABC) transporter protein, which plays a role in heme production and iron homeostasis. A mutation in this gene alters the availability of reduced iron and therefore disrupts heme biosynthesis. The ABCB7 gene is highly expressed in both the bone marrow and the cerebellum, which may explain ataxia. Inherited in an X-linked recessive manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318018015	A rare syndromic inherited form of sideroblastic anaemia characterised by mild to moderate anaemia (with hypochromia and microcytosis) and early-onset, non or slowly progressive spinocerebellar ataxia. Caused by mutations in the ABCB7 gene (Xq13.3), encoding a mitochondrial ATP-binding cassette (ABC) transporter protein, which plays a role in heme production and iron homeostasis. A mutation in this gene alters the availability of reduced iron and therefore disrupts heme biosynthesis. The ABCB7 gene is highly expressed in both the bone marrow and the cerebellum, which may explain ataxia. Inherited in an X-linked recessive manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3896581000052111	X-bunden sideroblastisk anemi med spinocerebellär ataxi	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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