Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Reactive mastocytosis |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
|
Histiocytic and mast cell tumor of uncertain behavior |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
2 |
Mast cell leukaemia (clinical) |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
1 |
Progressive systemic mastocytosis |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
|
Cutaneous mastocytosis, adult form (disorder) |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
|
Urticaria pigmentosa, diffuse erythrodermic type |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
|
Urticaria pigmentosa, multiple nodules AND/OR plaques |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
|
Localized extracutaneous mastocytosis |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
|
Urticaria pigmentosa, telangiectasia macularis eruptiva perstans |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
|
Indolent systemic mastocytosis |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
|
Non malignant mast cell disease |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
|
Cutaneous mastocytosis, infantile form (disorder) |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
|
urticaire pigmentaire |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
|
Urticaria pigmentosa, maculopapular type |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
|
Urticaria pigmentosa, solitary cutaneous nodule |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
|
Malignant mast cell tumors |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
|
Neoplasm of uncertain behavior of histiocytic and mast cells |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
|
Reactive mastocytosis |
Finding site |
True |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Mast cell leukaemia (clinical) |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Malignant mast cell tumor (clinical) |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Malignant mast cell tumors |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Mast cell malignancy of lymph nodes of head and neck (disorder) |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Mast cell malignancy of intrathoracic lymph nodes |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Mast cell malignancy of intra-abdominal lymph nodes |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Mast cell malignancy of lymph nodes of axilla and upper limb |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Mast cell malignancy of lymph nodes of inguinal region and lower limb |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Mast cell malignancy of intrapelvic lymph nodes |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Malignant mast cell sarcoma of spleen (disorder) |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
2 |
Mast cell malignancy of lymph nodes of multiple sites |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Mast cell activation syndrome (disorder) |
Finding site |
True |
Mast cell (cell) |
Inferred relationship |
Some |
1 |
Idiopathic anaphylaxis |
Finding site |
True |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Cutaneous mastocytosis, adult form (disorder) |
Finding site |
True |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Bullous cutaneous mastocytosis |
Finding site |
True |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Mast cell leukemia affecting skin (disorder) |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Mast cell disorder (disorder) |
Finding site |
True |
Mast cell (cell) |
Inferred relationship |
Some |
1 |
Aggressive lymphadenopathic mastocytosis with eosinophilia (disorder) |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Mast cell malignancy of lymph nodes (disorder) |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Diffuse erythrodermic mastocytosis (disorder) |
Finding site |
True |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Systemic mastocytosis with associated clonal hematological non-mast cell lineage disease (disorder) |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
4 |
Systemic mast cell disease (disorder) |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
1 |
Mast cell malignancy (disorder) |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
1 |
Solitary cutaneous mastocytoma (disorder) |
Finding site |
True |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Familial mastocytosis (disorder) |
Finding site |
True |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Cutaneous mastocytosis (disorder) |
Finding site |
True |
Mast cell (cell) |
Inferred relationship |
Some |
4 |
Indolent systemic mastocytosis |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
4 |
Indolent systemic mastocytosis |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Localized extracutaneous mastocytosis |
Finding site |
True |
Mast cell (cell) |
Inferred relationship |
Some |
2 |
Non malignant mast cell disease |
Finding site |
True |
Mast cell (cell) |
Inferred relationship |
Some |
1 |
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
6 |
A rare, aggressive form of advanced systemic mastocytosis (advSM) characterized by massive infiltration of mast cells (MC) in different tissues and presence of extracutaneous organ dysfunction, but without evidence of mast cell leukemia or another hematologic neoplasm. |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
2 |
leucémie mastocytaire classique |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Cutaneous mastocytosis, infantile form (disorder) |
Finding site |
True |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
leucémie mastocytaire aleucémique |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Malignant mast cell tumor of intra-abdominal lymph nodes |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Malignant mast cell tumor of intrapelvic lymph nodes |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Malignant mast cell tumor of intrathoracic lymph nodes |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Malignant mast cell tumor of lymph nodes of axilla AND/OR upper limb |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Malignant mast cell tumor of lymph nodes of head, face AND/OR neck |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Malignant mast cell tumor of lymph nodes of inguinal region AND/OR lower limb |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Malignant mast cell tumor of lymph nodes of multiple sites |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Malignant mast cell tumor of spleen |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Malignant mast cell tumor of extranodal AND/OR solid organ site |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Telangiectasia macularis eruptiva perstans |
Finding site |
True |
Mast cell (cell) |
Inferred relationship |
Some |
4 |
urticaire pigmentaire |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Mast cell gastritis (disorder) |
Finding site |
True |
Mast cell (cell) |
Inferred relationship |
Some |
1 |
Aggressive lymphadenopathic mastocytosis with eosinophilia (disorder) |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
2 |
Systemic mastocytosis with associated clonal hematological non-mast cell lineage disease (disorder) |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
2 |
A rare, aggressive form of advanced systemic mastocytosis (advSM) characterized by massive infiltration of mast cells (MC) in different tissues and presence of extracutaneous organ dysfunction, but without evidence of mast cell leukemia or another hematologic neoplasm. |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
1 |
leucémie mastocytaire aleucémique |
Finding site |
False |
Mast cell (cell) |
Inferred relationship |
Some |
2 |
Reactive mastocytosis |
Finding site |
True |
Mast cell (cell) |
Inferred relationship |
Some |
1 |
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. |
Finding site |
True |
Mast cell (cell) |
Inferred relationship |
Some |
1 |
Bullous diffuse cutaneous mastocytosis |
Finding site |
True |
Mast cell (cell) |
Inferred relationship |
Some |
4 |
Idiopathic mast cell activation syndrome (disorder) |
Finding site |
True |
Mast cell (cell) |
Inferred relationship |
Some |
1 |
Pseudoxanthomatous nodular cutaneous mastocytosis |
Finding site |
True |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
A rare hematologic disease characterized by symptoms of mast cell activation in the absence of cutaneous findings, as well as absence of diagnostic criteria of systemic mastocytosis with tryptase levels of less than 20 ng/ml and normal to low burden of mast cells. Bone marrow biopsy reveals the presence of monoclonal mast cells carrying the KIT D816V mutation and/or expressing CD25. Patients present with recurrent episodes of flushing, headache, hypotension, abdominal cramping, nausea, diarrhea, cardiac arrhythmias, bronchoconstriction, and bleeding diathesis, among others. |
Finding site |
True |
Mast cell (cell) |
Inferred relationship |
Some |
3 |
Congenital cutaneous mastocytosis |
Finding site |
True |
Mast cell (cell) |
Inferred relationship |
Some |
1 |
A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported. |
Finding site |
True |
Mast cell (cell) |
Inferred relationship |
Some |
1 |