Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Hypersomatotropic gigantism |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
2 |
FSH hypersecretion |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Eunuchoid gigantism |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
X-linked acrogigantism |
Has interpretation |
False |
Increased |
Inferred relationship |
Some |
3 |
Lactation hyperprolactinaemia |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Thyrotoxicosis due to pituitary thyroid hormone resistance |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
2 |
Prepuberal hyperpituitarism |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Adrenocorticotropic hormone hypersecretion (disorder) |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Macroprolactinemia (disorder) |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Thyrotoxicosis due to overproduction of thyroid stimulating hormone |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Postpartum amenorrhoea-galactorrhea syndrome |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
2 |
Gigantism and acromegaly |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Secondary hyperprolactinemia |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Gigantism |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Thyrotoxicosis due to TSHoma |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Secondary hyperprolactinemia due to prolactin-secreting tumor (disorder) |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. There have been no further descriptions in the literature since 1986. |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
3 |
A rare, genetic, neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign. |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
A rare genetic adrenal disorder with characteristics of congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981. |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
2 |
A rare neurometabolic disease characterised by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinaemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32. |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
A rare genetic endocrine disease with characteristics of early-onset (before the age of five years old) excessive acceleration of linear growth and body size due to pituitary mixed growth hormone and prolactin secreting adenomas and/or mixed-cell pituitary hyperplasia. Patients present gigantism and may associate acromegalic features (for example coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, appetite increase and acanthosis nigricans. |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
2 |
Benign intracranial hypertension due to drug (disorder) |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Benign intracranial hypertension due to hypervitaminosis A (disorder) |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Benign intracranial hypertension |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
2 |
An extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (for example in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries). Typical characteristics are symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalaemia) or symptoms caused by local tumour enlargement. |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Purpura of skin co-occurrent and due to vascular fragility (disorder) |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
2 |
Contusion of skin due to vascular fragility (disorder) |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
2 |
A rare hereditary familial primary hyperparathyroidism disease with characteristics of primary hyperparathyroidism due to single or multiple parathyroid tumours in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumours and/or systemic manifestations. |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Multiple drug intolerant hypertension (disorder) |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased range of knee movement |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased active range of knee extension |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased passive range of knee internal rotation |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased passive range of knee extension |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased passive range of knee external rotation |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased active range of knee flexion |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased passive range of knee flexion |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Above reference range (qualifier value) |
Is a |
True |
Increased |
Inferred relationship |
Some |
|
Increased active range of thumb flexion |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased passive range of thumb flexion |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased active range of thumb extension (finding) |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased passive range of thumb extension |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased active range of thumb abduction |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased passive range of thumb abduction |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased active range of thumb adduction |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased passive range of thumb adduction |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased active range of thumb opposition |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased passive range of thumb opposition |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased active range of hip flexion |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased passive range of hip flexion |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased active range of hip extension |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased passive range of hip extension |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased active range of hip abduction |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased passive range of hip abduction |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased active range of hip adduction |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased passive range of hip adduction |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased active range of hip internal rotation |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased passive range of hip internal rotation (finding) |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased active range of hip external rotation |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased passive range of hip external rotation |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased active range of midtarsal pronation |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased passive range of midtarsal pronation |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased active range of midtarsal supination |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Øget bevægeudslag ved passiv midttarsal supination |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased range of passive inversion of subtalar joint (finding) |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased range of active inversion of subtalar joint |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased range of passive eversion of subtalar joint |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased range of active eversion of subtalar joint |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased range of thumb movement |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased range of hip movement |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased range of foot movement |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Increased range of subtalar movement |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Scar mediated macro re-entrant atrial tachycardia (disorder) |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
A type of familial infantile gigantism caused by microduplication of Xq26.3. Onset usually occurs in the first year of life in previously normal infants. Patients present with gigantism and may associate acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, appetite increase and acanthosis nigricans. May present as a sporadic condition or as familial isolated pituitary adenomas. |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
2 |
At risk of emergency hospital admission |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
objektivt: hud over hudelement meget varm |
Has interpretation |
False |
Increased |
Inferred relationship |
Some |
2 |
Hot skin over lesion |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
2 |
Hot skin (finding) |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
2 |
Warm skin over lesion |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
2 |
objektivt: hud over hudelement varm |
Has interpretation |
False |
Increased |
Inferred relationship |
Some |
2 |
Warm skin (finding) |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
2 |
Hypertension stage 2 |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
2 |
Hypertension stage 1 |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
2 |
At increased risk of cardiovascular disease (finding) |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
At increased risk of malignant hyperthermia (finding) |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
2 |
Spondyloepimetafyseal dysplasi med løshed i led |
Has interpretation |
False |
Increased |
Inferred relationship |
Some |
4 |
Increased emotional excitability |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Precocious puberty with adrenocortical hyperfunction (disorder) |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
2 |
Augmented renal clearance (finding) |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Fetal heart baseline rate range 180 to 200 (finding) |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
2 |
Fetal heart baseline rate range 160 to 180 (finding) |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
2 |
Fetal heart baseline rate range above 200 (finding) |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
2 |
Hypertension due to aortic arch obstruction |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Pulmonary hypertension due to familial pulmonary capillary haemangiomatosis |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
3 |
Pulmonary hypertension due to pulmonary capillary hemangiomatosis (disorder) |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
3 |
Pulmonary hypertension due to pulmonary veno-occlusive disease (disorder) |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
3 |
Tachycardia - baseline fetal heart rate (finding) |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
2 |
Fetal supraventricular tachycardia with short ventriculoatrial interval |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Fetal supraventricular tachycardia with long ventriculoatrial interval (disorder) |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Normocalcemic primary hyperparathyroidism (disorder) |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |
Renal osteodystrophy with high bone turnover |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
5 |
Paroxysmal atrial fibrillation with rapid ventricular response |
Has interpretation |
True |
Increased |
Inferred relationship |
Some |
1 |