Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Plain X-ray of oral soft tissue abnormal |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Opacity on plain X-ray (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Opacity of tooth on plain X-ray |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Radiolucency of tooth on plain X-ray (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Plain X-ray pelvimetry abnormal (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Coin lesion of lung |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Plain X-ray of chest abnormal |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Lytic lesion of bone on plain X-ray (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Phlegmasia cerulea dolens |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Plain X-ray of nasal sinus abnormal |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Atypical haemolytic uraemic syndrome with complement gene abnormality |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Plain X-ray of thoracic cage abnormal |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Atypical haemolytic uraemic syndrome with anti-factor H antibodies |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Plain X-ray of pancreas abnormal |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Postmortem plain X-ray abnormal |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Plain X-ray skeletal survey abnormal |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
A rare genetic neurometabolic disease with characteristics of prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
7 |
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
7 |
Plain X-ray of biliary tract with contrast abnormal (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Abnormal female reproductive function |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Uterine dysfunction |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Tumultuous uterine contraction |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Dysfunction of urinary bladder (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Uninhibited neurogenic urinary bladder |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Must urinate repeatedly to empty urinary bladder (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Spastic neurogenic urinary bladder |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Flaccid neurogenic urinary bladder |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Neurogenic dysfunction of urinary bladder (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Paralysis of urinary bladder |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Neurogenic urinary bladder (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Neurogenic urinary bladder due to spina bifida (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
4 |
Nonneurogenic neurogenic urinary bladder dysfunction (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Cauda equina syndrome with neurogenic urinary bladder |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
6 |
Neurogenic urinary bladder due to and following cerebrovascular accident (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
5 |
Neurogenic urinary bladder due to quadriplegia (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
4 |
Paraplegia with neurogenic urinary bladder |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
7 |
Congenital neurogenic urinary bladder (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Reflex neuropathic urinary bladder (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Neurogenic urinary bladder following poliomyelitis (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
4 |
Noncompliant neuropathic urinary bladder (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
4 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, obesity, macrocephaly, behavioral abnormalities (such as aggressive tantrums and autistic-like behavior), and delayed speech development. Dysmorphic facial features include large, square forehead, prominent supraorbital ridges, broad nasal tip, large ears, prominent lower lip, and minor dental anomalies such as small upper lateral incisors and central incisor gap. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
4 |
Postural orthostatic tachycardia syndrome (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Bier anemic spots, cyanosis, and urticaria-like eruption syndrome (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
4 |
Abnormal weight gain |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Feces contents abnormal |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Abnormal finding on antenatal screening of mother (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Abnormal chromosomal and genetic finding on antenatal screening of mother |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Abnormal chromosomal and genetic finding on antenatal screening of mother |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Abnormal biochemical finding on antenatal screening of mother |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Antenatal amniocentesis - abnormal (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Abnormal cytological finding on antenatal screening of mother |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Abnormal radiological finding on antenatal screening of mother |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Abnormal radiological finding on antenatal screening of mother |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Low grade squamous intraepithelial lesion on vaginal Papanicolaou smear with human papillomavirus deoxyribonucleic acid detected (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Atypical squamous cells of undetermined significance on vaginal Papanicolaou smear with human papillomavirus deoxyribonucleic acid detected |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Plain X-ray of soft tissue of face abnormal (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Loss of affect |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Emotional expression that changes frequently or suddenly. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Restricted affect |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Expression of emotion through facial expression, quality of voice, and body posture, that is inappropriate given the current context or situation or inconsistent with expressed thoughts and feelings. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Hypomanic personality trait |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
A significant reduction, but not complete absence, in the range and intensity of emotional expression through facial expressions, voice quality, and/or body language. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Flat affect |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
A sense that one's emotions are being influenced or controlled by external forces. This may or may not be accompanied by a delusional belief that provides an explanation for the subjective experience. |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
trait de personnalité affectif |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
Abnormal affect (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Glaucoma suspect of right eye (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Glaucoma suspect of left eye |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Glaucoma suspect of bilateral eyes (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, severe intellectual disability, severe speech and communication problems and distinctive dysmorphic faces (high hairline, thin eyebrows, hypertelorism, dysmorphic ears, broad nasal bridge and tip, and narrow jaw). Height is not affected. Some patients may also present autistic behaviors. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
4 |
A rare constitutional aplastic anaemia characterised by aplastic anaemia, intellectual disability, short stature, and microcephaly. Skin pigmentation or cafe au lait spots are often present. Majority of the patients present global developmental delay with impaired motor skills, learning disabilities, speech delay whereas some patients also may have behavioural problems including autistic features. Patients often develop premalignant myelodysplastic syndromes or leukaemia. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
12 |
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, speech delay and variable degree of intellectual disability (mostly mid-to-moderate but some patients may also have normal intelligence) due to CHD4 gene mutations. Even though clinical manifestations are significantly variable among patients, most patients manifest dysmorphic facial features (could sometimes include macrocephaly), congenital heart defects, hypotonia and ophthalmologic abnormalities. Other clinical features may include brain structure anomalies, skeletal anomalies, hearing impairment and gonadal abnormalities. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
4 |
Derangement of radiocarpal joint (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Derangement of bilateral radiocarpal joints (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Derangement of bilateral ankle joints |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Derangement of anterior horn of lateral meniscus of bilateral knees |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Derangement of posterior horn of medial meniscus of bilateral knees |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Derangement of posterior horn of lateral meniscus of bilateral knees |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
A factor activity level of >5 percent of normal and <40 percent of normal. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
A factor activity level ≥1 percent of normal and ≤5 percent of normal. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
A factor activity level <1 percent of normal. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Hemophilia B Leyden (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Derangement of joint of left wrist region (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Derangement of left radiocarpal joint (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Derangement of right radiocarpal joint (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Derangement of joint of right wrist region |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Derangement of joint of wrist region |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Fluoroscopic lymphangiography with contrast abnormal |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Pancytopenia caused by antidiabetic drug (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
6 |
Computed tomography of nervous system with contrast abnormal (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
TTS (thrombosis with thrombocytopenia syndrome) following non-replicating adenovirus vector COVID-19 vaccination |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Instability of thoracic and lumbar spine (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Instability of thoracic and lumbar spine (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Characterised by persistent sexual side effects that continue after discontinuing selective serotonin re-uptake inhibitors (SSRIs), a class of antidepressants. Symptoms may include reduced libido, erectile dysfunction, anorgasmia (inability to achieve orgasm), genital numbness, and other sexual dysfunctions. These symptoms can last for weeks, months, or even years after stopping the medication. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Slightly abnormal (qualifier value) |
Is a |
True |
Abnormal |
Inferred relationship |
Some |
|
Occupational phototoxic reaction to tar (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Phototoxicity |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Acne exacerbated by light |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |