Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets. |
Finding site |
True |
Body system structure |
Inferred relationship |
Some |
1 |
A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections. |
Finding site |
True |
Body system structure |
Inferred relationship |
Some |
1 |
A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Patients generally present in infancy with recurrent infections, failure to thrive, fever, diarrhea, and dermatitis. |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
1 |
A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia. |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
1 |
A rare T-B+ severe combined immunodeficiency characterized by profoundly decreased levels of T-cells, normal B-cells, and low immunoglobulin levels. The thymus is present. Patients typically become symptomatic in infancy or early childhood with recurrent infections. Epstein-Barr virus (EBV)-associated B-cell lymphoproliferative syndrome/lymphoma and mucocutaneous-immunodeficiency syndrome have been reported in association. Some patients may show developmental delay, neurocognitive impairment, and behavioral dysfunction (in particular attention deficit-hyperactivity disorder). |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
1 |
O'Brien active compression test |
Procedure site - Direct (attribute) |
True |
Body system structure |
Inferred relationship |
Some |
2 |
Load and shift test |
Procedure site - Direct (attribute) |
True |
Body system structure |
Inferred relationship |
Some |
2 |
Yocum shoulder impingement test (procedure) |
Procedure site - Direct (attribute) |
True |
Body system structure |
Inferred relationship |
Some |
2 |
The non-test arm is placed in full (180 degrees) forward flexion and the affected arm in neutral flexion and full internal rotation. The clinician holds the affected arm in internal rotation and fully extends the patient's arm at the glenohumeral joint noting the degree of extension possible. The test is then repeated on the opposite side. A positive test is if there is a greater amount of glenohumeral extension possible on the affected side. |
Procedure site - Direct (attribute) |
True |
Body system structure |
Inferred relationship |
Some |
2 |
The patient is placed in a supine position with the affected upper limb overhead and elbow flexed at 40 degrees. Anteroposterior force is applied to the radius and ulna with the forearm in external rotation. The test is considered positive if apprehension occurs. |
Procedure site - Direct (attribute) |
True |
Body system structure |
Inferred relationship |
Some |
3 |
The patient is positioned facing the edge of a table and using one arm, supinated, performs a press-up on the edge of the table. If apprehension occurs at approximately 40 degrees flexion, the clinician pushes on the radial head with their thumb to prevent subluxation. The test is considered positive if thumb pressure relieves apprehension. |
Procedure site - Direct (attribute) |
True |
Body system structure |
Inferred relationship |
Some |
3 |
A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. This disease is due to hyperresponsive platelets, resulting in thrombocytopenia. |
Finding site |
True |
Body system structure |
Inferred relationship |
Some |
2 |
A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive. |
Finding site |
True |
Body system structure |
Inferred relationship |
Some |
2 |
A rare T-B+ severe combined immunodeficiency characterized by profoundly decreased levels of T-cells, normal B-cells, and low immunoglobulin levels. The thymus is present. Patients typically become symptomatic in infancy or early childhood with recurrent infections. Epstein-Barr virus (EBV)-associated B-cell lymphoproliferative syndrome/lymphoma and mucocutaneous-immunodeficiency syndrome have been reported in association. Some patients may show developmental delay, neurocognitive impairment, and behavioral dysfunction (in particular attention deficit-hyperactivity disorder). |
Finding site |
True |
Body system structure |
Inferred relationship |
Some |
2 |
A rare severe combined immunodeficiency characterised by T-cell lymphopenia and absent T-cell proliferative responses, and normal B-cell and natural killer cell counts. Patients present in the first months of life with severe recurrent infections, failure to thrive, haematologic autoimmune disorders, and/or lymphoproliferation with splenomegaly. |
Finding site |
True |
Body system structure |
Inferred relationship |
Some |
2 |
A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia. |
Finding site |
True |
Body system structure |
Inferred relationship |
Some |
2 |
A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Patients generally present in infancy with recurrent infections, failure to thrive, fever, diarrhea, and dermatitis. |
Finding site |
True |
Body system structure |
Inferred relationship |
Some |
2 |
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD3 delta subunit of T-cell receptor complex mutation (disorder) |
Finding site |
True |
Body system structure |
Inferred relationship |
Some |
2 |
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD3 epsilon subunit of T-cell receptor complex mutation (disorder) |
Finding site |
True |
Body system structure |
Inferred relationship |
Some |
2 |
Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation |
Finding site |
True |
Body system structure |
Inferred relationship |
Some |
2 |
Autosomal recessive T- B+ severe combined immunodeficiency due to SLP76 mutation |
Finding site |
True |
Body system structure |
Inferred relationship |
Some |
2 |
Severe combined immunodeficiency due to BCL11 transcription factor B deficiency (disorder) |
Finding site |
True |
Body system structure |
Inferred relationship |
Some |
2 |
Autosomal recessive combined immunodeficiency due to Wiskott Aldrich syndrome protein-interacting protein deficiency (disorder) |
Finding site |
True |
Body system structure |
Inferred relationship |
Some |
4 |
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect |
Finding site |
True |
Body system structure |
Inferred relationship |
Some |
4 |
Destructive procedure by organ system |
Procedure site |
True |
Body system structure |
Inferred relationship |
Some |
1 |