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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/783251006
http://purl.bioontology.org/ontology/SNOMEDCT/783251006
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|---|---|
| Preferred Name | Hereditary thrombocytopenia with normal platelets |
| Definitions |
A rare, genetic, isolated constitutional thrombocytopenia disease characterized by decreased platelet counts, not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported.
A rare genetic isolated constitutional thrombocytopenia disease with characteristics of decreased platelet counts not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported.
A rare, genetic, isolated constitutional thrombocytopenia disease characterised by decreased platelet counts, not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported.
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| Synonyms |
Hereditary thrombocytopenia with normal platelets (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare, genetic, isolated constitutional thrombocytopenia disease characterized by decreased platelet counts, not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported. A rare genetic isolated constitutional thrombocytopenia disease with characteristics of decreased platelet counts not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported. A rare, genetic, isolated constitutional thrombocytopenia disease characterised by decreased platelet counts, not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported. |
|---|---|
| prefLabel | Hereditary thrombocytopenia with normal platelets
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| altLabel | Hereditary thrombocytopenia with normal platelets (disorder)
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| Has interpretation | |
| Type ID |
900000000000003001
900000000000013009
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| Semantic type UMLS property | |
| Has finding site | |
| interprets | |
| Effective time | 20190731
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| cui | C5190888
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| CTV3ID | XVA3T
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| DEFINITION STATUS ID | 900000000000074008
|
| CASE SIGNIFICANCE ID | 900000000000448009
|
| tui | T047
|
| Active | 1
|
| notation | 783251006
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| type | |
| subClassOf | |
| Subset member | 447562003~MAPRULE~TRUE
447562003~MAPADVICE~ALWAYS D69.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPGROUP~1
6011000124106~MAPTARGET~D69.42
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
447562003~MAPTARGET~D69.4
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
900000000000497000~MAPTARGET~XVA3T
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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