719816006: anémie sidéroblastique liée à l'X et ataxie spinocérébelleuse (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\X chromosome-linked sideroblastic anemia (disorder)\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\numération des globules rouges basse (constatation)\Congenital anemia\X chromosome-linked sideroblastic anemia (disorder)\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\numération des globules rouges basse (constatation)\Congenital anemia\X chromosome-linked sideroblastic anemia (disorder)\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\Congenital anemia\X chromosome-linked sideroblastic anemia (disorder)\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\cytopénie (constatation)\numération des globules rouges basse (constatation)\Congenital anemia\X chromosome-linked sideroblastic anemia (disorder)\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\X chromosome-linked sideroblastic anemia (disorder)\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Evaluation finding\Measurement finding\Red blood cell count - finding\RBC count abnormal\numération des globules rouges basse (constatation)\Congenital anemia\X chromosome-linked sideroblastic anemia (disorder)\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\X chromosome-linked sideroblastic anemia (disorder)\X-linked sideroblastic anemia with spinocerebellar ataxia
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \constatation à propos du dos\Finding of spinal region\constatation à propos de la moelle spinale\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\...
• \troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia (disorder)\X-linked sideroblastic anemia with spinocerebellar ataxia
• \anémie\Congenital anemia\X chromosome-linked sideroblastic anemia (disorder)\X-linked sideroblastic anemia with spinocerebellar ataxia
• \anémie\Sideroblastic anemia\X chromosome-linked sideroblastic anemia (disorder)\X-linked sideroblastic anemia with spinocerebellar ataxia
• \anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia (disorder)\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Finding related to coordination / incoordination (finding)\Ataxia\...
• \Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Cerebellar ataxia\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \constatation à propos du système nerveux central\constatation à propos de la moelle spinale\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\...
• \Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \affection de la tête\Disorder of brain (disorder)\...
• \Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Genetic disease\maladie héréditaire\Inherited disorder of porphyrin metabolism (disorder)\X chromosome-linked sideroblastic anemia (disorder)\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia (disorder)\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X chromosome-linked sideroblastic anemia (disorder)\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia (disorder)\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\anomalie des éléments figurés du sang (trouble)\anémie\Congenital anemia\X chromosome-linked sideroblastic anemia (disorder)\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\anomalie des éléments figurés du sang (trouble)\anémie\Sideroblastic anemia\X chromosome-linked sideroblastic anemia (disorder)\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia (disorder)\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia (disorder)\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \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\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\affection d'un système corporel\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia (disorder)\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\affection de la tête\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\trouble métabolique\Disorder of porphyrin metabolism\Inherited disorder of porphyrin metabolism (disorder)\X chromosome-linked sideroblastic anemia (disorder)\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\Congenital disease\Congenital anemia\X chromosome-linked sideroblastic anemia (disorder)\X-linked sideroblastic anemia with spinocerebellar ataxia
• \Disease\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\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
754881000241116	anémie sidéroblastique liée à l'X et ataxie spinocérébelleuse (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
893861000172114	anémie sidéroblastique liée à l'X avec ataxie	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
917361000172119	anémie sidéroblastique liée à l'X et ataxie spinocérébelleuse	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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

Expanded Value Set

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