Bleeding disorder, platelet-type, 14

Preferred Label : Bleeding disorder, platelet-type, 14;

Symbol : BDPLT14;

CISMeF acronym : BDPLT14;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Thromboxane synthetase deficiency;

Inheritance : Autosomal dominant;

Prefixed ID : 614158;

Details

Origin ID

614158;

UMLS CUI

C0398635;

Currated CISMeF NLP mapping
- Thromboxane synthetase deficiency (disorder) [SNOMED CT concept]
- platelet-type bleeding disorder 14 [DO Concept]
- thromboxane synthetase deficiency [MeSH concept]
- thromboxane synthetase deficiency [MeSH Supplementary Concept]
DO Cross reference
- platelet-type bleeding disorder 14 [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Decreased serum thromboxane B2 [HPO term]
- Ecchymosis [HPO term]
- Epistaxis [HPO term]
- Prolonged bleeding time [HPO term]
Not associated HPO term(s)
- Abnormal platelet count [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Thromboxane synthetase deficiency (disorder) [SNOMED CT concept]
- platelet-type bleeding disorder 14 [DO Concept]
- thromboxane synthetase deficiency [MeSH Supplementary Concept]
- thromboxane synthetase deficiency [MeSH concept]

Keyword's position in hierarchy(ies) :

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