congenital amegakaryocytic thrombocytopenia

Preferred Label : congenital amegakaryocytic thrombocytopenia;

Définition CISMeF : Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.;

MeSH synonym : amegakaryocytic thrombocytopenia, congenital;

Details

Origin ID

C535982;

UMLS CUI

C1327915;

Automatic exact mappings (from CISMeF team)
- Congenital Amegakaryocytic Thrombocytopenia [NCIt concept]
- Congenital amegakaryocytic thrombocytopenia [ICD-11 More detail]
Currated CISMeF NLP mapping
- Amegakaryocytic thrombocytopenia, congenital, 1 [OMIM Phenotype]
- Congenital amegakaryocytic thrombocytopenia [ORDO Disease]
- Congenital amegakaryocytic thrombocytopenia (disorder) [SNOMED CT concept]
- congenital amegakaryocytic thrombocytopenia [DO Concept]
DO Cross reference
- congenital amegakaryocytic thrombocytopenia [DO Concept]
MeSH term(s) associated for indexing
- Congenital Bone Marrow Failure Syndromes [MeSH Descriptor]
- thrombocytopenia [MeSH Descriptor]
ORDO relation(s)
- Congenital amegakaryocytic thrombocytopenia [ORDO Disease]
Record concept(s)
- Congenital amegakaryocytic thrombocytopenia [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Amegakaryocytic thrombocytopenia, congenital, 1 [OMIM Phenotype]
- Congenital Amegakaryocytic Thrombocytopenia [NCIt concept]
- Congenital amegakaryocytic thrombocytopenia [ORDO Disease]
- Congenital amegakaryocytic thrombocytopenia (disorder) [SNOMED CT concept]
- congenital amegakaryocytic thrombocytopenia [DO Concept]
Validated automatic mappings to NTBT
- Amegakaryocytic thrombocytopenia (disorder) [SNOMED CT concept]

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