Congenital Amegakaryocytic Thrombocytopenia

Preferred Label : Congenital Amegakaryocytic Thrombocytopenia;

NCIt 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.;

Details

Origin ID

C115207;

UMLS CUI

C1327915;

Automatic exact mappings (from CISMeF team)
- Amegakaryocytic thrombocytopenia, congenital, 1 [OMIM Phenotype]
- Congenital amegakaryocytic thrombocytopenia [ORDO Disease]
- Congenital amegakaryocytic thrombocytopenia [MeSH concept]
- Congenital amegakaryocytic thrombocytopenia [ICD-11 More detail]
- Congenital amegakaryocytic thrombocytopenia (disorder) [SNOMED CT concept]
- congenital amegakaryocytic thrombocytopenia [DO Concept]
- congenital amegakaryocytic thrombocytopenia [MeSH Supplementary Concept]
DO Cross reference
- congenital amegakaryocytic thrombocytopenia [DO Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Amegakaryocytic thrombocytopenia, congenital, 1 [OMIM Phenotype]
- Congenital amegakaryocytic thrombocytopenia [ORDO Disease]
- Congenital amegakaryocytic thrombocytopenia [MeSH concept]
- Congenital amegakaryocytic thrombocytopenia (disorder) [SNOMED CT concept]
- congenital amegakaryocytic thrombocytopenia [DO Concept]
- congenital amegakaryocytic thrombocytopenia [MeSH Supplementary Concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MPL Gene [NCIt concept]
related_to_genetic_biomarker
- MPL Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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