Familial Platelet Disorder with Associated Myeloid Malignancy

Preferred Label : Familial Platelet Disorder with Associated Myeloid Malignancy;

NCIt synonyms : FPDMM; FPD/AML;

NCIt related terms : Familial Platelet Disorder and AML Syndrome;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the RUNX1 gene, encoding runt-related transcription factor 1. It is characterized by thrombocytopenia, abnormal platelet function, and a propensity to develop acute myeloid leukemia.;

Details

Origin ID

C162696;

UMLS CUI

C1832388;

Currated CISMeF NLP mapping
- Familial platelet disorder with associated myeloid malignancy [ORDO Disease]
- Familial platelet syndrome with predisposition to acute myelogenous leukaemia [ICD-11 More detail]
- Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder) [SNOMED CT concept]
- Platelet disorder, familial, with associated myeloid malignancy [OMIM Phenotype]
- platelet disorder, familial, with associated myeloid malignancy [MeSH Supplementary Concept]
- platelet disorder, familial, with associated myeloid malignancy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial platelet disorder with associated myeloid malignancy [ORDO Disease]
- Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder) [SNOMED CT concept]
- Platelet disorder, familial, with associated myeloid malignancy [OMIM Phenotype]
- platelet disorder, familial, with associated myeloid malignancy [MeSH Supplementary Concept]
- platelet disorder, familial, with associated myeloid malignancy [MeSH concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- RUNX1 Gene [NCIt concept]
related_to_genetic_biomarker
- RUNX1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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