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SNOMED CT, US Edition
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/720521008
http://purl.bioontology.org/ontology/SNOMEDCT/720521008
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|---|---|
| Preferred Name | Autosomal dominant macrothrombocytopenia |
| Definitions |
This syndrome has characteristics of congenital thrombocytopenia associated with the presence of large platelets. To date less than 10 cases are reported. The syndrome is caused by mutations in the integrin, beta 3 ITGB3, tubulin, beta-1TUBB1 and actinin, alpha1 ACTN1 genes. These mutations lead to abnormal proplatelets and thrombocytopenia. Transmission is autosomal dominant.
A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.
A rare isolated constitutional thrombocytopenia characterised by abnormally large platelets.
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| Synonyms |
Autosomal dominant macrothrombocytopenia (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | This syndrome has characteristics of congenital thrombocytopenia associated with the presence of large platelets. To date less than 10 cases are reported. The syndrome is caused by mutations in the integrin, beta 3 ITGB3, tubulin, beta-1TUBB1 and actinin, alpha1 ACTN1 genes. These mutations lead to abnormal proplatelets and thrombocytopenia. Transmission is autosomal dominant. A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets. A rare isolated constitutional thrombocytopenia characterised by abnormally large platelets. |
|---|---|
| altLabel | Autosomal dominant macrothrombocytopenia (disorder)
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| prefLabel | Autosomal dominant macrothrombocytopenia
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID | 900000000000448009
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| notation | 720521008
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| Effective time | 20170131
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| Active | 1
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| Has finding site | |
| interprets | |
| subClassOf | |
| Semantic type UMLS property | |
| Has interpretation | |
| type | |
| Subset member | 447562003~MAPRULE~TRUE
900000000000497000~MAPTARGET~XUuEp
6011000124106~MAPGROUP~1
6011000124106~MAPTARGET~D69.42
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
447562003~MAPTARGET~D69.4
447562003~MAPTARGET~D69.1
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
447562003~MAPADVICE~ALWAYS D69.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
447562003~MAPADVICE~ALWAYS D69.4
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS D69.42 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XUuEp
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| Occurs in | |
| cui | C4304021
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| Delete | Subject | Author | Type | Created |
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| No notes to display |