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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/719816006
http://purl.bioontology.org/ontology/SNOMEDCT/719816006
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|---|---|
| Preferred Name | X-linked sideroblastic anemia with spinocerebellar ataxia |
| Definitions |
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.
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.
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.
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.
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| Synonyms |
X-linked sideroblastic anemia with spinocerebellar ataxia (disorder)
X-linked sideroblastic anaemia with spinocerebellar ataxia
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | 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. 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. 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. 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. |
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| prefLabel | X-linked sideroblastic anemia with spinocerebellar ataxia
|
| altLabel |
X-linked sideroblastic anemia with spinocerebellar ataxia (disorder)
X-linked sideroblastic anaemia with spinocerebellar ataxia
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| Has interpretation | |
| Type ID |
900000000000003001
900000000000013009
|
| Semantic type UMLS property | |
| Has finding site | |
| interprets | |
| Effective time | 20170131
|
| cui | C1845028
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| CTV3ID | XUu33
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| DEFINITION STATUS ID | 900000000000074008
|
| CASE SIGNIFICANCE ID | 900000000000017005
|
| Occurs in | |
| tui | T047
|
| Active | 1
|
| Has associated morphology | |
| notation | 719816006
|
| type | |
| subClassOf | |
| Subset member | 6011000124106~MAPTARGET~D64.0
447562003~MAPRULE~TRUE
447562003~MAPTARGET~D64.0
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
447562003~MAPGROUP~2
6011000124106~MAPTARGET~G11.19
6011000124106~MAPADVICE~ALWAYS D64.0
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPADVICE~ALWAYS G11.19
900000000000508004~ACCEPTABILITYID~900000000000548007
900000000000497000~MAPTARGET~XUu33
447562003~MAPPRIORITY~1
6011000124106~MAPTARGET~G11.1
447562003~MAPCATEGORYID~447637006
447562003~MAPADVICE~ALWAYS G11.1
447562003~MAPADVICE~ALWAYS D64.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS G11.1
447562003~MAPTARGET~G11.1
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