Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Scenic visual hallucinations |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Dissociative visual hallucinations |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Formed hallucinations of people |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Formed hallucinations of animals |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Formed hallucinations of insects |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Formed hallucinations of objects |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Sexual dysfunction caused by drug (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Abnormal adrenocorticotropic hormone (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Ectopic ACTH secretion |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
2 |
Paraneoplastic ectopic secretion of ACTH |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
2 |
Esophageal dysmotility following bariatric surgery (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Ear examination abnormal |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Acquired prekallikrein deficiency (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
A rare genetic coagulation disorder characterised by the usually incidental laboratory finding of a prolonged activated partial thromboplastin time (aPTT) but normal prothrombin time, due to a deficiency of normal prekallikrein or the presence of nonfunctional prekallikrein. Most patients remain clinically asymptomatic, although an association with cardiovascular conditions (hypertension, myocardial infarction, other coronary artery diseases, and ischaemic strokes) and venous thrombosis, as well as rare cases with increased bleeding tendency have been reported. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Congenital instability of bilateral hip joints (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Instability of spinal joint due to and following traumatic injury (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Achalasia due to Chagas disease (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
4 |
Post-traumatic mutism |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
6 |
Acquired dysphasia (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Traumatic rupture of posterior cruciate ligament of left knee joint (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Right knee joint posterior cruciate ligament traumatic rupture |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
6 |
Extrinsic staining of teeth caused by drug |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Posteruptive teeth staining |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Teeth staining caused by metal (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Teeth staining due to pulpal bleeding |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Teeth staining caused by drugs (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Intrinsic staining of tooth caused by tetracycline |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Posteruptive tooth staining caused by tetracycline (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Abnormal nervous system function |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Foreign accent syndrome is a rare motor speech disorder characterized by a speech pattern that results in accent changes perceived as new and different to their native accent. The etiology is unclear but occurs most commonly following structural neurological damage e.g. cerebrovascular accident but has also been associated with a functional neurological etiology. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Ectopic renin secretion |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Tobacco deposit on teeth |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
A rare genetic disease characterised by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, intellectual disability, macrothrombocytopenia, lymphedema, and dysmorphic facial features (like synophrys, ptosis, eversion of the lateral portion of the lower eyelid, and thin upper lip, among others). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies, and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy, or white matter changes. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
A rare syndromic constitutional thrombocytopenia characterized by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo- or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-hematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes, and wide nostrils. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Betel deposit on teeth |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
A rare genetic hematologic and intestinal disease characterized by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, hematuria, and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcer. Mildly reduced levels of coagulation factor XI have been reported in addition. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Antepartum hemorrhage with afibrinogenemia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Hyperfibrinolysis |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Antepartum hemorrhage with coagulation defect (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Antepartum haemorrhage with hyperfibrinolysis |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Antepartum hemorrhage with coagulation defect - delivered |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
2 |
Antepartum hemorrhage with coagulation defect - not delivered |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
Antepartum hemorrhage with hypofibrinogenemia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Antepartum hemorrhage with disseminated intravascular coagulation (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Density outside reference range (finding) |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
Erythrokeratodermia-cardiomyopathy syndrome is a rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
4 |
Maternal perinatal purpura (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Fetal purpura (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, developmental delay, macrocephaly, speech delay, and hypotonia. Dysmorphic facial features include a high, broad, and/or prominent forehead, laterally sparse eyebrows, widely spaced and deeply-set eyes, narrow palpebral fissures, low-set ears, full/prominent cheeks, midface hypoplasia, thin upper lip, and a pointed chin. Additional variable manifestations include joint laxity, abnormality of vision (including hypermetropia, strabismus, and cerebral visual impairment), genital abnormalities in males, and inguinal, umbilical, or hiatal hernia. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Perinatal disorder of skin and temperature regulation (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
ARIA - amyloid-related imaging abnormality |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
ARIA-E - amyloid-related image abnormality of edema or effusion |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
ARIA-H - amyloid-related image abnormality of microhemorrhage or haemosiderosis |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Abnormal heart to thorax ratio of fetus (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Amphetamine-induced sexual dysfunction |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma, and potential postpartum hemorrhage, among others. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Opioid-induced sexual dysfunction |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
A rare isolated hereditary giant platelet disorder characterised by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous haematoma, and menorrhagia. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
A rare systemic disease characterized by acute or subacute onset of thrombocytopenia, anasarca (edema, pleural effusion, ascites), and systemic inflammation (fever and/or elevated C-reactive protein). Minor diagnostic categories are Castleman's disease-like features on lymph node biopsy, reticulin myelofibrosis and/or increased number of megakaryocytes in bone marrow, progressive renal insufficiency, and mild organomegaly including hepatosplenomegaly and lymphadenopathy. Most patients show elevated levels of serum alkaline phosphatase, while marked polyclonal hypergammopathy is rare. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Acquired antithrombin III deficiency |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Osteogenesis imperfecta type IIC presents with varying thickness of the ribs, discontinuous beading of the ribs, malformed scapula and ischia, and long bones with thin shafts and expanded metaphyses. Type IIC is extremely rare. Appearances have been reported in fetuses with mutations in the MESD gene (15q25). The disease is either autosomal dominant or autosomal recessive depending on the gene involved. Autosomal dominant cases occur either sporadically or due to germline mosaicism. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Premature separation of placenta with coagulation defect |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
A rare genetic coagulation disorder characterized by marked bleeding tendency and posttraumatic bleeding with easy bruising, soft tissue and muscle bleeding, hemarthroses, and menorrhagia due to an increase of soluble thrombomodulin in plasma with subsequent protein C activation and reduction of thrombin generation within a potential thrombus. Abnormal laboratory findings include markedly elevated plasma thrombomodulin, reduced prothrombin consumption, and decreased thrombin generation. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Dysmotility of small intestine caused by drug |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Dysmotility of small intestine due to systemic disease |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Discoloration of kidney |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Perceptual disturbances co-occurrent and due to hypnotic withdrawal (disorder) |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
2 |
Perceptual disturbances and seizures co-occurrent and due to hypnotic withdrawal (disorder) |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
2 |
Brugada electrocardiograph pattern |
Has interpretation |
True |
Abnormal |
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. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
A rare lymphatic system anomaly characterized by multifocal congenital and progressive vascular lesions of the skin, gastrointestinal tract, and occasionally other anatomic sites, causing potentially life-threatening thrombocytopenic coagulopathy. Macroscopically, the lesions appear as round to oval, red-brown plaques, as large as a few centimeters in diameter. Histopathologically, they consist of dilated, thin-walled vessels with variable endothelial hyperplasia, positive for lymphatic endothelial cell markers, and resembling benign lymphangioendothelioma. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Spontaneous Brugada electrocardiograph pattern (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Ultrasonography of lung abnormal (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Pale face |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
Discoloration of liver |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Provoked Brugada electrocardiograph pattern |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Behavioral disturbance due to multi-infarct dementia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
4 |
Instability of joint of bilateral wrist regions (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Instability of joint of bilateral hands (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Instability of joint of bilateral elbows (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Instability of joint of sacrococcygeal region (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Abnormal rapid eye movement sleep |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Selective immunoglobulin dysfunction |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Hyperimmunoglobulin D with periodic fever |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
2 |
Acquired protein S deficiency |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Acquired protein C deficiency (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Acquired heparin cofactor II deficiency (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Abnormal fetal heart beat first noted during labor AND/OR delivery in liveborn infant |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Intrapartum hemorrhage with coagulation defect |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Parturient hemorrhage associated with hypofibrinogenemia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Regular wide QRS complex tachycardia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Abnormal amniotic fluid |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Disorder of amniotic fluid turnover |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Purulent amniotic fluid (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Pigmented purpuric dermatosis (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
5 |
Lichen aureus |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
6 |
Progressive pigmentary dermatosis of Schamberg |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
6 |