Preferred Label : Refractory Cytopenia of Childhood;
NCIt synonyms : RCC;
NCIt definition : A myeloid disorder that occurs in childhood and is characterized by persistent cytopenia,
dysplastic changes in at least two hematopoietic lineages or in 10% or more of cells
in one hematopoietic lineage, less than 5% blasts in bone marrow, and less than 2%
blasts in peripheral blood, absence of bone marrow fibrosis, and absence of history
of prior cytotoxic chemotherapy or radiation therapy. In a subset of cases, somatic
mutations or cytogenetic abnormalities can be identified. Other cases are the result
of pre-existing disorders with germline mutations, including Fanconi anemia, Shwachman-Diamond
syndrome, and dyskeratosis congenita.;
Alternative definition : NICHD: The most common subtype of the myelodysplastic syndromes affecting children.
It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow
and less than 2% blasts in the peripheral blood. Most cases are associated with a
normal karyotype, however, when abnormal, monosomy 7 is the most frequently seen cytogenetic
abnormality.;
Neoplastic status : Malignant;
ICD-O code : 9985/3;
Origin ID : C82596;
UMLS CUI : C2826323;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Disease may have findings
- Has associated anatomic sites
- Semantic type(s)
- UMLS correspondences (same concept)
- concept_is_in_subset
- disease_excludes_finding
- disease_has_abnormal_cell
- disease_has_associated_disease
- disease_has_associated_disease
- disease_has_finding
- disease_has_normal_cell_origin
- disease_has_normal_tissue_origin
- disease_has_primary_anatomic_site
- disease_may_have_associated_disease
- disease_may_have_cytogenetic_abnormality
- disease_may_have_molecular_abnormality
