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124 results

Current membership scope: Secondary membership only

ConceptNode typeBase domainMatched membershipIdentifier
Hyperinsulinism
A syndrome with excessively high INSULIN levels in the BLOOD. It may cause HYPOGLYCEMIA. Etiology of hyperinsulinism varies, including hypersecretion…
Metabolic DisorderPathologyEndocrinology [curated_secondary]AMW:DIS:180028
Hyperlipidemias
Conditions with excess LIPIDS in the blood.
Metabolic DisorderPathologyEndocrinology [curated_secondary]AMW:DIS:180040
Hyperlipoproteinemias
Conditions with abnormally elevated levels of LIPOPROTEINS in the blood. They may be inherited, acquired, primary, or secondary. Hyperlipoproteinemia…
Metabolic DisorderPathologyEndocrinology [curated_secondary]AMW:DIS:180042
Hyperparathyroidism
A condition of abnormally elevated output of PARATHYROID HORMONE (or PTH) triggering responses that increase blood CALCIUM. It is characterized by HY…
Metabolic DisorderPathologyEndocrinology [curated_secondary]AMW:DIS:190021
Hyperparathyroidism, Primary
A condition of abnormally elevated output of PARATHYROID HORMONE due to parathyroid HYPERPLASIA or PARATHYROID NEOPLASMS. It is characterized by the …
Metabolic DisorderPathologyEndocrinology [curated_secondary]AMW:DIS:190022
Hyperparathyroidism, Secondary
Abnormally elevated PARATHYROID HORMONE secretion as a response to HYPOCALCEMIA. It is caused by chronic KIDNEY FAILURE or other abnormalities in the…
Metabolic DisorderPathologyEndocrinology [curated_secondary]AMW:DIS:190023
Hyperphosphatemia
A condition of abnormally high level of PHOSPHATES in the blood, usually significantly above the normal range of 0.84-1.58 mmol per liter of serum.
Metabolic DisorderPathologyEndocrinology [curated_secondary]AMW:DIS:180049
Hyperthyroidism
Hypersecretion of THYROID HORMONES from the THYROID GLAND. Elevated levels of thyroid hormones increase BASAL METABOLIC RATE.
Metabolic DisorderPathologyEndocrinology [curated_secondary]AMW:DIS:190032
Hyperthyroxinemia
Abnormally elevated THYROXINE level in the BLOOD.
Metabolic DisorderPathologyEndocrinology [curated_secondary]AMW:DIS:190035
Hypertriglyceridemia
A condition of elevated levels of TRIGLYCERIDES in the blood.
Metabolic DisorderPathologyEndocrinology [curated_secondary]AMW:DIS:180043
Hypertriglyceridemic Waist
A screening phenotype consisting of both elevated WAIST CIRCUMFERENCE and elevated fasting TRIGLYCERIDES level.
Metabolic DisorderPathologyEndocrinology [curated_secondary]AMW:DIS:180044
Hypoadrenocorticism, Familial
Genetic or familial occurrence of ADDISONS DISEASE characterized by insufficient production of cortisol, aldosterone, and/or other hormones made in t…
Metabolic DisorderPathologyEndocrinology [curated_secondary]AMW:DIS:190006
Hypoaldosteronism
A congenital or acquired condition of insufficient production of ALDOSTERONE by the ADRENAL CORTEX leading to diminished aldosterone-mediated synthes…
Metabolic DisorderPathologyEndocrinology [curated_secondary]AMW:DIS:190007
Hypobetalipoproteinemia, Familial, Apolipoprotein B
An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROT…
Metabolic DisorderPathologyEndocrinology [curated_secondary]AMW:DIS:180045
Hypoglycemia
A syndrome of abnormally low BLOOD GLUCOSE level. Clinical hypoglycemia has diverse etiologies. Severe hypoglycemia eventually lead to glucose depriv…
Metabolic DisorderPathologyEndocrinology [curated_secondary]AMW:DIS:180031
Hypogonadism
Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by de…
Metabolic DisorderPathologyEndocrinology [curated_secondary]AMW:DIS:190016
Hypokalemic Periodic Paralysis
An autosomal dominant familial disorder characterized by recurrent episodes of skeletal muscle weakness associated with falls in serum potassium leve…
Congenital DisorderPathologyEndocrinology [curated_secondary]AMW:DIS:050292
Hypoparathyroidism
A condition caused by a deficiency of PARATHYROID HORMONE (or PTH). It is characterized by HYPOCALCEMIA and hyperphosphatemia. Hypocalcemia leads to …
Metabolic DisorderPathologyEndocrinology [curated_secondary]AMW:DIS:190024
Hypophosphatemia
A condition of an abnormally low level of PHOSPHATES in the blood.
Metabolic DisorderPathologyEndocrinology [curated_secondary]AMW:DIS:180050
Hypothyroidism
A syndrome that results from abnormally low secretion of THYROID HORMONES from the THYROID GLAND, leading to a decrease in BASAL METABOLIC RATE. In i…
Metabolic DisorderPathologyEndocrinology [curated_secondary]AMW:DIS:190037
Insulin Resistance
Diminished effectiveness of INSULIN in lowering blood sugar levels: requiring the use of 200 units or more of insulin per day to prevent HYPERGLYCEMI…
Metabolic DisorderPathologyEndocrinology [curated_secondary]AMW:DIS:180029
Kallmann Syndrome
A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADO…
SyndromePathologyEndocrinology [curated_secondary]AMW:DIS:120073
Klinefelter Syndrome
A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of…
SyndromePathologyEndocrinology [curated_secondary]AMW:DIS:120081
Laron Syndrome
An autosomal recessive disorder characterized by short stature, defective GROWTH HORMONE RECEPTOR, and failure to generate INSULIN-LIKE GROWTH FACTOR…
SyndromePathologyEndocrinology [curated_secondary]AMW:DIS:050012
Latent Autoimmune Diabetes in Adults
Autoimmune diabetes in adults with slowly progressive PANCREATIC BETA CELL failure and the presence of circulating autoantibodies to PANCREATIC ISLET…
Immune DisorderPathologyEndocrinology [curated_secondary]AMW:DIS:180024
Lingual Goiter
Pathological enlargement of the LINGUAL THYROID, ectopic thyroid tissue at the base of the TONGUE. It may cause upper AIRWAY OBSTRUCTION; DYSPHAGIA; …
Congenital DisorderPathologyEndocrinology [curated_secondary]AMW:DIS:160055
Lingual Thyroid
A condition characterized by the presence of rudimentary THYROID tissue at the base of the TONGUE. It is due to failed embryonic development and migr…
Metabolic DisorderPathologyEndocrinology [curated_secondary]AMW:DIS:160054
Metabolic Syndrome
A cluster of symptoms that are risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome incl…
SyndromePathologyEndocrinology [curated_secondary]AMW:DIS:180030
Mulibrey Nanism
Growth failure from birth that is due to mutations in a gene (TRIM37) on chromosome 17q22-q23 which encodes a RING-B-box-coiled-coil protein.
Congenital DisorderPathologyEndocrinology [curated_secondary]AMW:DIS:050013
Obesity
A status with BODY WEIGHT that is grossly above the recommended standards, usually due to accumulation of excess FATS in the body. The standards may …
Metabolic DisorderPathologyEndocrinology [curated_secondary]AMW:DIS:180094