Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Part 1 Schilling test (procedure) |
Procedure site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Radionuclide white blood cell imaging study (procedure) |
Procedure site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hemoglobin SS disease with vasoocclusive crisis (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Radionuclide measurement of red cell mass and plasma volume |
Procedure site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chagas' mega disease (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chagas' mega disease (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hemoglobin O-Arab trait (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Manual procedure for malpresentation or position |
Procedure site - Direct (attribute) |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Internal conversion of face to vertex (procedure) |
Procedure site - Direct (attribute) |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hemoglobin H constant spring thalassemia (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Manual rotation of fetal head |
Procedure site - Direct (attribute) |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Reposition of a prolapsed arm |
Procedure site - Direct (attribute) |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Internal cephalic version and extraction |
Procedure site - Direct (attribute) |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Fetal head - manual flexion |
Procedure site - Direct (attribute) |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Internal conversion of face to vertex (procedure) |
Procedure site - Direct (attribute) |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Reposition of a prolapsed arm |
Procedure site - Direct (attribute) |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Internal cephalic version and extraction |
Procedure site - Direct (attribute) |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Fetal head - manual flexion |
Procedure site - Direct (attribute) |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Manual rotation of fetal head |
Procedure site - Direct (attribute) |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Manual procedure for malpresentation or position |
Procedure site - Direct (attribute) |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Dysarthria as late effects of cerebrovascular disease |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Isolated collagen aggregation defect |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Glycoprotein Ia defect |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Platelet membrane defect (disorder) |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Thromboxane synthetase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Platelet secretory disorder (disorder) |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Thromboxane generation defect |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Gray platelet syndrome |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Glanzmann's thrombasthenia |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bernard Soulier syndrome |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
May Hegglin syndrome |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mixed alpha granule and dense body deficiency (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Familial alpha>2< adrenergic receptor defect in platelets |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Dense body defect (disorder) |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Glycoprotein Ib defect |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Giant platelet syndrome |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
syndrome des plaquettes Québec |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cyclooxygenase deficiency |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Platelet dense granule deficiency |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hereditary platelet function disorder (disorder) |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Platelet factor V deficiency (factor V Quebec) |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital dysmegakaryopoietic thrombocytopenia, Paris Trousseau type (disorder) |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Scott syndrome |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Platelet procoagulant activity deficiency |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Platelet type pseudo-von Willebrand disease |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hereditary thrombocytopenic disorder (disorder) |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Platelet storage pool defect |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Inherited platelet disorder |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Sickle cell trait in mother complicating childbirth |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Sickle cell anemia in mother complicating childbirth |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Thalassemia in mother complicating childbirth (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Thalassemia in mother complicating pregnancy (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Sickle cell trait in mother complicating pregnancy |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Structure of skin and/or mucous membrane (body structure) |
Is a |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Apprehension test of shoulder |
Procedure site - Direct (attribute) |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Structure of subdivision of organ system (body structure) |
Is a |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Severe combined immunodeficiency due to DCLRE1C deficiency |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (disorder) |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency (disorder) |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
White platelet syndrome (disorder) |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Medich giant platelet syndrome (disorder) |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
MYH9 macrothrombocytopenia syndrome |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets. |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Familial thrombocytosis (disorder) |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Neutrophil immunodeficiency syndrome |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID). |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Combined immunodeficiency due to CD3gamma deficiency (disorder) |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Immunodeficiency by defective expression of human leukocyte antigen class 1 |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Combined immunodeficiency due to partial RAG1 deficiency |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Perianal Crohn's disease |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Extraintestinal Crohn's (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A screening test that determines the side of iliosacral somatic dysfunction (motion of ilium on the sacrum). |
Procedure site - Direct (attribute) |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Seated flexion test (procedure) |
Procedure site - Direct (attribute) |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bleeding disorder due to glycoprotein VI deficiency (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
immunodéficience combinée sévère due à un déficit de recrutement par la caspase 11 |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Severe combined immunodeficiency due to IKK2 deficiency |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bleeding diathesis due to collagen receptor defect (disorder) |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hereditary thrombocytopenia with normal platelets (disorder) |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Lateral epicondylitis test (procedure) |
Procedure site - Direct (attribute) |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hereditary neutrophilia (disorder) |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Perianal Crohn's disease |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bernard Soulier syndrome |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Glanzmann's thrombasthenia |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Platelet storage pool defect |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Mixed alpha granule and dense body deficiency (disorder) |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Familial alpha>2< adrenergic receptor defect in platelets |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Glycoprotein Ib defect |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Thromboxane synthetase deficiency |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I (disorder) |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bleeding disorder due to glycoprotein VI deficiency (disorder) |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Adenosine deaminase 2 deficiency (disorder) |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
X-linked thrombocytopenia with normal platelets (disorder) |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder) |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Hereditary thrombocytopenia with early-onset myelofibrosis |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Severe combined immunodeficiency due to LAT deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant thrombocytopenia with platelet secretion defect |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Severe autosomal recessive macrothrombocytopenia (disorder) |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets. |
Finding site |
True |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |