| HPO |
HP:0012398 |
Peripheral edema |
"An abnormal accumulation of interstitial fluid in the soft tissues of the limbs." [HPO:probinson] |
— |
HP:0000969 |
| HPO |
HP:0012399 |
Pressure ulcer |
"A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips." [HPO:probinson] |
Pressure ulcers tend to affect persons with reduced mobility who are bedridden or wheelchair-bound. |
HP:0200042 |
| HPO |
HP:0012400 |
Abnormal aldolase level |
"An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate." [HPO:probinson] |
The reaction catalyzed by aldolase is a component of the glycolysis pathway. |
HP:0012379 |
| HPO |
HP:0012401 |
Abnormal urine alpha-ketoglutarate concentration |
"A deviation from normal of the concentration of 2-oxoglutaric acid in the urine." [HPO:probinson] |
Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid. |
HP:0033354 |
| HPO |
HP:0012402 |
Increased urine alpha-ketoglutarate concentration |
"A greater than normal concentration of 2-oxoglutaric acid in the urine." [HPO:probinson] |
Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid. |
HP:0012401 |
| HPO |
HP:0012403 |
Decreased urine alpha-ketoglutarate concentration |
"A lower than normal concentration of 2-oxoglutaric acid in the urine." [HPO:probinson] |
Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid. |
HP:0012401 |
| HPO |
HP:0012404 |
Abnormal urine citrate concentration |
"A deviation from normal of the concentration of citrate(3-) in the urine." [HPO:probinson] |
— |
HP:0033354 |
| HPO |
HP:0012405 |
Hypocitraturia |
"A lower than normal concentration of citrate(3-) in the urine." [HPO:probinson] |
— |
HP:0012404 |
| HPO |
HP:0012406 |
Hypercitraturia |
"A greater than normal concentration of citrate(3-) in the urine." [HPO:probinson] |
— |
HP:0012404 |
| HPO |
HP:0012407 |
Scissor gait |
"A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use." [HPO:probinson] |
Scissor gait is a form of gait abnormality primarily associated with spastic cerebral palsy. |
HP:0031958 |
| HPO |
HP:0012408 |
Medullary nephrocalcinosis |
"The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney)." [ORDCID:0000-0001-5208-3432] |
— |
HP:0000121 |
| HPO |
HP:0012409 |
Cortical nephrocalcinosis |
"The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla)." [HPO:probinson] |
— |
HP:0000121 |
| HPO |
HP:0012410 |
Pure red cell aplasia |
"A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction." [HPO:probinson] |
Pure red cell aplasia results from a maturation arrest occurs in the formation of erythrocytes. |
HP:0012131 |
| HPO |
HP:0012411 |
Premature pubarche |
"The onset of growth of pubic hair at an earlier age than normal." [HPO:probinson] |
— |
HP:0000826 |
| HPO |
HP:0012412 |
Premature adrenarche |
"Onset of adrenarche at an earlier age than usual." [HPO:probinson] |
Adrenarche is an early sexual maturation stage that typically occurs at around 6 to 8 years of age, during which the adrenal cortex begins to secrete increased levels of androgens resulting from the development of the zona reticularis in the adrenal cortex. Note that pubarche refers to the development of pubic hair, axillary hair, and adult sweat gland (apocrine) odor. The physical features associated with pubarche reflect the onset of adrenarche, which refers to the pubertal maturation of the adrenal and is associated with increased secretion of an adrenal hormone called dehydroepiandrosterone sulfate (DHEAS). {xref="PMID:10414639"} |
HP:0100000 |
| HPO |
HP:0012413 |
Notched primary central incisor |
"The presence of a V-shaped indentation (notch) in the primary central incisor." [HPO:probinson] |
— |
HP:0011063 |
| HPO |
HP:0012414 |
Duodenal atrophy |
"Wasting or decrease in size of all or part of the duodenum." [HPO:probinson] |
— |
HP:0002246 |
| HPO |
HP:0012415 |
Abnormal blood gas level |
"An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood." [HPO:probinson] |
— |
HP:0002795 |
| HPO |
HP:0012416 |
Hypercapnia |
"Abnormally elevated blood carbon dioxide (CO2) level." [HPO:probinson] |
— |
HP:0500164 |
| HPO |
HP:0012417 |
Hypocapnia |
"Abnormally reduced blood carbon dioxide (CO2) level." [HPO:probinson] |
— |
HP:0500164 |
| HPO |
HP:0012418 |
Hypoxemia |
"An abnormally low level of blood oxygen." [HPO:probinson] |
Note that hypoxemia is defined as a condition where arterial oxygen tension is below normal (80-100mmHg). Hypoxia is defined as the failure of oxygenation at the tissue level. Hypoxia is not measured directly by a standard laboratory value. |
HP:0500165 |
| HPO |
HP:0012419 |
Hyperoxemia |
"An abnormally high level of blood oxygen." [HPO:probinson] |
Note that hyperoxemia is defined as a condition where arterial oxygen tension is above normal (80-100mmHg). Hyperoxia is defined as increased oxygen tension at the tissue level. Hyperoxia is not measured directly by a standard laboratory value. |
HP:0500165 |
| HPO |
HP:0012420 |
Meconium stained amniotic fluid |
"Amniotic fluid containing the earliest stools of a mammalian infant." [HPO:probinson] |
Meconium may be expelled into the amniotic fluid before birth in response to fetal distress. If meconium is aspirated by the fetus, it may lead to meconium aspiration syndrome. |
HP:0001560 |
| HPO |
HP:0012421 |
Congenital absence of foreskin |
"Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis." [HPO:probinson] |
Absence of the foreskin can be accompanied by Cryptorchidism and Hypospadias, which should be coded separately. |
HP:0100587 |
| HPO |
HP:0012422 |
Villous hypertrophy of choroid plexus |
"Overgrowth of the choroid plexus." [HPO:probinson, PMID:16523225] |
The most common location for overgrowth is the lateral ventricles. The choroid plexus folds into many villi around capillaries, creating frond-like processes that project into the ventricles. The terms choroid plexus hypertrophy or choroid plexus hyperplasia are used interchangeably to refer to an increase in size of these structures. Diffuse villous hyperplasia of choroid plexus (DVHCP) is a rare condition which is characterized by the presence of diffuse enlargement of the entire choroid plexus throughout the length of the choroidal fissure and overproduction of CSF. |
HP:0007376 |