Paris-Trousseau thrombocytopenia

Preferred Label : Paris-Trousseau thrombocytopenia;

ICD-11 definition : Paris-Trousseau thrombocytopenia is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.;

Details

Origin ID

1441183910;

UMLS CUI

C1956093;

Currated CISMeF NLP mapping
- Paris-Trousseau thrombocytopenia [ORDO Disease]
- Paris-Trousseau thrombocytopenia [MeSH concept]
- Thrombocytopenia, paris-trousseau type [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Paris-Trousseau thrombocytopenia [MeSH concept]
- Paris-Trousseau thrombocytopenia [ORDO Disease]
- Thrombocytopenia, paris-trousseau type [OMIM Phenotype]
Validated automatic mappings to NTBT
- jacobsen distal 11q deletion syndrome [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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