Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
A rare hematological neoplasm characterized by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features of myeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages. |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Myeloproliferative disorder (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dysplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported. |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Differentiation syndrome due to and following chemotherapy co-occurrent with acute promyelocytic leukemia (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Hereditary isolated aplastic anemia is a rare, genetic, constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion dependent. |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Sclerosing osteomyelitis |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Gonococcal osteomyelitis (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Q fever osteomyelitis (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Drug-induced hypoplasia of bone marrow (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Osteomyelitis |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
SAPHO syndrome |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
5 |
Bacterial osteomyelitis |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Salmonella osteomyelitis |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Osteomyelitis caused by Pasteurella multocida (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Osteomyelitis of multiple sites |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
B-cell prolymphocytic leukemia in remission |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Juvenile myelomonocytic leukaemia in remission |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Refractory acute myeloid leukaemia |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Relapsing acute myeloid leukemia (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Leukemic reticuloendotheliosis of intra-abdominal lymph nodes |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
2 |
Osteomyelitis due to type 1 diabetes mellitus (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Osteomyelitis due to type 2 diabetes mellitus (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Acute myeloid leukemia with CBFB::MYH11 fusion (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
B lymphoblastic leukemia lymphoma with hyperdiploidy (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
B lymphoblastic leukemia lymphoma with t(5;14)(q31;q32); IL3-IGH |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
B lymphoblastic leukemia lymphoma with t(12;21) (p13;q22); TEL/AML1 (ETV6-RUNX1) (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
B lymphoblastic leukemia lymphoma with t(1;19)(Q23;P13.3); E2A-PBX1 (TCF3/PBX1) (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
B lymphoblastic leukemia lymphoma with hypodiploidy |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Post-polycythaemia vera myelofibrosis |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Myelofibrosis due to and following essential thrombocythemia (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Adult T-cell leukaemia/lymphoma in remission |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
T-cell prolymphocytic leukemia in remission |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Emberger syndrome |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Acute myeloid leukemia with t(8;21)(q22;q22) RUNX1-RUNX1T1 (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Acute myelofibrosis in remission |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Myelofibrosis caused by drug (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Mixed phenotype acute leukemia with myeloid and B-cell lymphoid phenotypes |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Mixed phenotype acute leukemia with T-cell and myeloid lineage (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Mixed phenotype acute leukemia with t(9;22) (q34;q11.2); BCR-ABL1 (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Primary familial polycythemia due to erythropoietin receptor mutation |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
4 |
Myelodysplastic syndrome with single lineage dysplasia |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Myeloproliferative hypereosinophilic syndrome (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Aase syndrome |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
A rare tumor arising from hematopoietic and lymphoid tissues characterized by abnormal proliferation and differentiation of a clonal population of myeloid stem cells carrying unspecific 11q23 abnormalities. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs, and include leukocytosis, anemia, thrombocytopenia, fatigue, anorexia and weight loss. |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Acute myeloid leukaemia in complete remission |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Myeloid leukemia associated with Down syndrome (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
High-dose chemotherapy with stem cell transplant (procedure) |
Procedure site - Indirect (attribute) |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Leukemic infiltration of skin in monocytic leukemia (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
2 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by early-onset progressive bone marrow failure with anemia, leukopenia, mild thrombopenia, and myelodysplastic features, as well as non-hematologic manifestations, such as developmental delay, cataracts, facial dysmorphism, short stature, and skeletal anomalies. Immunodeficiency primarily affects B-cells and may lead to increased susceptibility to infections. Additional reported features include dry skin and eczema, cardiac anomalies, hearing loss, and reduction of cerebral volume on brain imaging. |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Disorder of central nervous system co-occurrent and due to acute lymphoid leukemia in remission (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Aggressive NK-cell leukaemia involving skin |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Osteomyelitis caused by Salmonella enterica enterica serovar Typhi (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
2 |
A group of rare acute leukemias of ambiguous lineage characterized by the presence of separate populations of blasts of more than one lineage (bilineal), a single population of blasts coexpressing antigens of more than one lineage (biphenotypic), or a combination thereof. The diagnosis relies on immunophenotyping, the T-cell component being characterized by strong expression of cytoplasmic CD3, usually in the absence of surface CD3, the B-cell component expressing CD19, almost always together with CD10, cCD79a, CD22, or PAX5, while the most specific hallmark of the myeloid component is the presence of myeloperoxidase in the blast cytoplasm. |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Chronic nonbacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterised by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine. |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases. |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
A rare acute myeloid leukemia (AML) with recurrent genetic anomaly characterized by the presence of bone marrow and peripheral blood myeloblasts with features ranging from those of minimal differentiation to granulocytic maturation, demonstrating t(9;22)(q34.1;q11.2) or molecular genetic evidence of BCR-ABL1 fusion. Evidence of chronic myeloid leukemia (CML) is absent. Patients most commonly present with leukocytosis with blast predominance and variable anemia and thrombocytopenia. Splenomegaly is less frequent and peripheral blood basophilia lower than in patients with myeloid blast transformation of CML. The disease occurs primarily in adults, and response to traditional AML therapy or tyrosine kinase inhibitor therapy alone is typically poor. |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Aspiration of bone marrow from donor for transplant |
Procedure site - Direct (attribute) |
True |
Bone marrow structure |
Inferred relationship |
Some |
2 |
Multiple bone marrow aspiration |
Procedure site - Direct (attribute) |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Percutaneous fine needle aspiration biopsy of bone marrow using imaging guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
A rare radiation-induced disorder resulting from whole body exposure to large doses of penetrating radiation (>0.7 Gray) within a very short period of time (usually minutes) and characterized by bone marrow syndrome with pancytopenia (mild symptoms of which may occur already at 0.3 Gray), gastrointestinal syndrome resulting in mostly fatal infection, dehydration, and electrolyte imbalance (occurring at doses >10 Gray), and cardiovascular/central nervous system syndrome with watery diarrhea, convulsions, coma, and death within three days of exposure (occurring at doses >50 Gray). The syndrome develops in four clinical stages (prodromal/latent/manifest illness/recovery or death) of variable duration. |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Hematopoietic subsyndrome of acute radiation syndrome (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
10 |
Myelodysplastic neoplasm with low blasts and SF3B1 mutation |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Myelodysplastic syndrome with low blasts (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Hypoplastic myelodysplastic syndrome (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Myelodysplastic neoplasm with biallelic TP53 inactivation (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome with atypical features of uncertain clinical significance. |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
A rare acute leukemia of ambiguous lineage characterized by clonal proliferation of primitive hematopoietic cells, primarily in the bone marrow and blood, lacking lineage-specific markers and detectable genotypic alterations. The patients present with leukocytosis, anemia, variable platelet count and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (lymphadenopathy, splenomegaly, hepatomegaly). |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Transient abnormal myelopoiesis co-occurrent with Down syndrome (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Fanconi anemia of complementation group C |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Polycythaemia vera in remission |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Ventricular shunt to bone marrow |
Procedure site - Direct (attribute) |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Syngeneic peripheral blood stem cell transplantation (procedure) |
Procedure site - Indirect (attribute) |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Transplantation of allogeneic hematopoietic stem cell (procedure) |
Procedure site - Indirect (attribute) |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Chronic osteomyelitis |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Chronic hematogenous osteomyelitis (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Chronic osteomyelitis of multiple sites |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
A rare constitutional aplastic anaemia characterised by aplastic anaemia, intellectual disability, short stature, and microcephaly. Skin pigmentation or cafe au lait spots are often present. Majority of the patients present global developmental delay with impaired motor skills, learning disabilities, speech delay whereas some patients also may have behavioural problems including autistic features. Patients often develop premalignant myelodysplastic syndromes or leukaemia. |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
2 |
Disorder of bone marrow caused by ionising radiation |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Bone marrow suppression using irradiation |
Procedure site - Direct (attribute) |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Finding of bone marrow erythropoiesis (finding) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Bone marrow normoblastic |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
2 |
Bone marrow megaloblastic |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
2 |
Bone marrow erythropoiesis hyperplasia (finding) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
2 |
Erythroid hypoplasia of bone marrow (finding) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
2 |
Immature red blood cells (erythroid cells) in the bone marrow are abnormal in size, shape, organization, and/or number. |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
2 |