Terms & Properties

Preferred Name:  Congenital Amegakaryocytic Thrombocytopenia

Definition:  A rare, autosomal recessive inherited disorder caused by mutation in the c-Mpl gene. It is characterized by thrombocytopenia and absence of megakaryocytes. It presents with bleeding in the first month of life.

Display Name:  Congenital Amegakaryocytic Thrombocytopenia

Label:  Congenital Amegakaryocytic Thrombocytopenia

NCI Thesaurus Code:  C115207 (Search for linked caDSR metadata)   (search value sets)

NCI Metathesaurus Link:  C1327915  (see NCI Metathesaurus info)

Synonyms & Abbreviations: (see Synonym Details)

Congenital Amegakaryocytic Thrombocytopenia

External Source Codes: 

UMLS CUI

C1327915

Other Properties:

Name	Value (qualifiers indented underneath)
code	C115207
Contributing_Source	CCPS
Contributing_Source	CTRP
Semantic_Type	Disease or Syndrome

Additional Concept Data: 

Defined Fully by Roles: No

URL:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C115207