Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Osteomyelitis due to type 2 diabetes mellitus (disorder) |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
2 |
Osteomyelitis due to type 1 diabetes mellitus (disorder) |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
2 |
Childhood myelodysplastic syndrome (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
2 |
Osteomyelitis due to type 2 diabetes mellitus (disorder) |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
4 |
Osteomyelitis of forefoot (disorder) |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
3 |
Gonococcal osteomyelitis (disorder) |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
4 |
Osteomyelitis due to type 1 diabetes mellitus (disorder) |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
4 |
Percutaneous fine needle aspiration biopsy of bone marrow using imaging guidance (procedure) |
Procedure site - Direct (attribute) |
False |
Bone marrow structure |
Inferred relationship |
Some |
2 |
Percutaneous fine needle aspiration biopsy of bone marrow using imaging guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Bone marrow structure |
Inferred relationship |
Some |
3 |
Transplantation of autologous hematopoietic stem cell (procedure) |
Procedure site - Indirect (attribute) |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Draining sinus co-occurrent and due to chronic osteomyelitis of femur (disorder) |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
7 |
Draining sinus co-occurrent and due to chronic osteomyelitis of forearm (disorder) |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
7 |
Draining sinus co-occurrent and due to chronic osteomyelitis of hand (disorder) |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
7 |
Draining sinus co-occurrent and due to chronic osteomyelitis of shoulder (disorder) |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
7 |
Draining sinus co-occurrent and due to chronic osteomyelitis of ankle and/or foot (disorder) |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
7 |
Draining sinus co-occurrent and due to chronic osteomyelitis of humerus (disorder) |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
7 |
Chronic osteomyelitis of lower leg with draining sinus |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
6 |
Draining sinus co-occurrent and due to chronic osteomyelitis of ankle (disorder) |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
7 |
Draining sinus co-occurrent and due to chronic osteomyelitis of foot (disorder) |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
7 |
Chronic osteomyelitis |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
4 |
Acute osteomyelitis of multiple sites |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
4 |
Osteomyelitis |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
3 |
Subacute osteomyelitis |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
4 |
Radiation injury of bone marrow |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
2 |
Leukaemic reticuloendotheliosis of lymph nodes of head, face and neck |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
2 |
Diskospondylitis |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
4 |
Osteomyelitis caused by Staphylococcus aureus (disorder) |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
4 |
Osteomyelitis of multiple sites |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
4 |
Acute hematogenous osteomyelitis |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
4 |
Acute osteomyelitis (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
4 |
Transplantation of autologous progenitor cell (procedure) |
Procedure site - Indirect (attribute) |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Diffuse sclerosing osteomyelitis (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
4 |
Q fever osteomyelitis (disorder) |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
5 |
Tuberculous osteomyelitis |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
5 |
Bacterial osteomyelitis |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
3 |
SAPHO syndrome |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
6 |
Chronic osteomyelitis with draining sinus |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
4 |
Majeed syndrome is a rare genetic multisystemic disorder characterised by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
2 |
Brodie's abscess of tibia |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
4 |
Chronic sclerosing nonsuppurative osteomyelitis (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
3 |
Gonococcal osteomyelitis (disorder) |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
2 |
Chronic multifocal osteomyelitis |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
4 |
Brodie's abscess of coccyx |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
5 |
Chronic osteomyelitis of multiple sites |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
4 |
Brodie's abscess |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
5 |
Brodie's abscess of thoracic spine |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
4 |
Brodie's abscess of cervical spine |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
5 |
Brodie's abscess of lumbar spine |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
5 |
Brodie's abscess of sacrum |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
4 |
Disorder of central nervous system co-occurrent and due to acute lymphoid leukemia in remission (disorder) |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
4 |
Disorder of central nervous system co-occurrent and due to acute lymphoid leukemia |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
3 |
Aplastic anaemia co-occurrent with human immunodeficiency virus infection |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
6 |
Philadelphia chromosome-negative precursor B-cell acute lymphoblastic leukaemia |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Aplastic anemia due to infection |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
2 |
Parvoviral aplastic crisis |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
2 |
Aplastic anemia caused by antineoplastic agent |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
3 |
Antibody mediated acquired pure red cell aplasia caused by erythropoiesis stimulating agent (disorder) |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
3 |
Edema of bone marrow (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995. |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
4 |
Chronic hematogenous osteomyelitis (disorder) |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
4 |
Osteomyelitis caused by Pasteurella multocida (disorder) |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
3 |
Therapy related acute myeloid leukemia and myelodysplastic syndrome (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Transient abnormal myelopoiesis (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Acute leukemia of ambiguous lineage (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Aggressive natural killer-cell leukemia (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Refractory neutropenia |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Refractory thrombocytopenia (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Akute myeloblastische Leukämie mit rekurrenter genetischer Anomalie |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Acute lymphoid leukemia relapse (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Refractory acute lymphoid leukemia (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Hematopoietic subsyndrome of acute radiation syndrome (disorder) |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
6 |
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
5 |
A rare disease, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality. |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
4 |
B lymphoblastic leukemia lymphoma with t(9:22) (q34;q11.2); BCR-ABL 1 (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
A distinct form of acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed. |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Myeloid leukemia associated with Down syndrome (disorder) |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
4 |
Chronic lymphocytic leukemia genetic mutation variant (disorder) |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Transient abnormal myelopoiesis co-occurrent with Down syndrome (disorder) |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
3 |
A rare subtype of acute myeloid leukaemia with recurrent genetic abnormalities characterised by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anaemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported. |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Acute myeloid leukemia with FMS-like tyrosine kinase-3 mutation |
Finding site |
False |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Therapy related acute myeloid leukaemia due to and following administration of antineoplastic agent |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
3 |
A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. The disease is characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease. |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Bone marrow cytological material |
Specimen source topography |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
A subtype of acute myeloid leukaemia with recurrent genetic abnormalities, characterised by clonal proliferation of myeloid blasts harbouring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anaemia, thrombocytopenia, and other nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Inherited acute myeloid leukemia (AML) is a rare, malignant hematologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis, etc.) and genetic defects predisposing to AML. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly, etc.). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present. |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure. |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
A subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbour unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain). |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposide, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukaemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukaemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement. |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
Estren-Dameshek anemia |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
4 |
Transient hypoplastic anaemia |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
3 |
Constitutional aplastic anemia |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
3 |
Constitutional aplastic anemia with malformation |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
3 |
Fanconi's anemia |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
4 |
Parvoviral aplastic crisis |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
4 |
A rare constitutional aplastic anemia characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
A rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG). |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
2 |
A rare, genetic, hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner. |
Finding site |
True |
Bone marrow structure |
Inferred relationship |
Some |
1 |
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 |