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

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

Status: current, Primitive. 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	Active	Case sensitive	SNOMED CT core
3318016016	X-linked sideroblastic anaemia with spinocerebellar ataxia	en	Synonym	Active	Case sensitive	SNOMED CT core
3318474018	X-linked sideroblastic anemia with spinocerebellar ataxia (disorder)	en	Fully specified name	Active	Case sensitive	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	Case sensitive	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	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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