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SNOMED CT
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/SNOMEDCT/724344004
http://purl.bioontology.org/ontology/SNOMEDCT/724344004
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|---|---|
| Preferred Name | Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency |
| Definitions |
The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.
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| Synonyms |
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI. |
|---|---|
| altLabel | Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder)
|
| prefLabel | Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID | 900000000000448009
|
| notation | 724344004
|
| Effective time | 20170731
|
| Active | 1
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| interprets | |
| subClassOf | |
| Semantic type UMLS property | |
| Has interpretation | |
| type | |
| Subset member |
900000000000497000~MAPTARGET~XUvSU
447562003~MAPRULE~TRUE
6011000124106~MAPTARGET~E77.8
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
447562003~MAPGROUP~1
6011000124106~MAPTARGET~D68.59
447562003~MAPTARGET~E88.8
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
447562003~MAPADVICE~ALWAYS E88.8
6011000124106~MAPADVICE~ALWAYS E77.8
6011000124106~MAPADVICE~ALWAYS D68.59
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XUvSU
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| Occurs in | |
| cui | C4510605
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