| HPO |
HP:0002616 |
Aortic root aneurysm |
"An abnormal localized widening (dilatation) of the aortic root." [] |
— |
HP:0012727 |
| HPO |
HP:0002643 |
Neonatal respiratory distress |
"Respiratory difficulty as newborn." [HPO:probinson] |
— |
HP:0002093 |
| 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:0100578 |
Lipoatrophy |
"Localized loss of fat tissue." [HPO:sdoelken] |
This may occur as a result of subcutanous injections of insulin in the treatment of diabetes, from the use of human growth hormone or from subcutanous injections of Copaxone used for the treatment of multiple sclerosis. In the latter case, an injection may produce a small dent at the injection site. Lipoatrophy is also an adverse drug reaction that is associated with some antiretroviral drugs. |
HP:0009125 |
| HPO |
HP:0009901 |
Crumpled ear |
"Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds." [PMID:19152421] |
This is distinct from Stahl ear and Shell ear, with which the term has sometimes been conflated. The appearance often changes markedly after birth. |
HP:0000377 |
| HPO |
HP:0010511 |
Long toe |
"Toes that appear disproportionately long compared to the foot." [HPO:probinson, PMID:19125433] |
This finding must be distinguished from digits that are thin but of normal length and that of a short mid and hind foot with normal digit lengths. The affected digits should be specified. If only a subset of the digits of a limb is lengthened, the affected digits should be specified. |
HP:0001780 |
| HPO |
HP:0001270 |
Motor delay |
"A type of Developmental delay characterized by a delay in acquiring motor skills." [HPO:probinson] |
— |
HP:0012758 |
| HPO |
HP:0000973 |
Cutis laxa |
"Wrinkled, redundant, inelastic and sagging skin." [HPO:probinson] |
— |
HP:0008067 |
| HPO |
HP:0008734 |
Decreased testicular size |
"Reduced volume of the testicle (the male gonad)." [HPO:probinson] |
— |
HP:0000050, HP:0010468 |
| HPO |
HP:0000494 |
Downslanted palpebral fissures |
"The palpebral fissure inclination is more than two standard deviations below the mean." [PMID:19125427] |
— |
HP:0200006 |
| HPO |
HP:0003116 |
Abnormal echocardiogram |
"An abnormality detectable by sonography of the heart (echocardiography)." [HPO:probinson] |
Note that while structural heart anomalies can cause abnormal echocardiograpy findings, structural abnormalities are detectable by multiple imaging modalities and should be coded using terms from the hierarchy under 'Abnormality of cardiac morphology' (HP:0001627). |
HP:0011025, HP:0500015 |
| HPO |
HP:0005180 |
Tricuspid regurgitation |
"Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium." [HPO:probinson] |
This term should not be applied to Ebstein's anomaly of the tricuspid valve (see HP:0010316). |
HP:0031651 |
| HPO |
HP:0001382 |
Joint hypermobility |
"The ability of a joint to move beyond its normal range of motion." [HPO:probinson] |
— |
HP:0011729 |
| HPO |
HP:0000485 |
Megalocornea |
"An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age." [HPO:curators] |
— |
HP:0001120 |
| HPO |
HP:0001252 |
Hypotonia |
"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist." [HPO:probinson, PMID:21418198] |
Hypotonia can be caused by abnormalities of the central nervous system, any element of the motor unit (including the lower motoneuron), or both. Hypotonia is not a specific diagnosis, but can be observed in hundreds of genetic and other diseases. The first distinction to make when assessing a child with hypotonia is whether decreased muscle tone is a result of an abnormality of the central nervous system (CNS), peripheral neuromuscular system, or a combined abnormality involving both. Clinical findings suggestive of an abnormality of the CNS may include hyperreflexia, cognitive developmental delay, and seizures. In contrast, physical findings pointing towards a neuromuscular origin may include weakness, lack of antigravity movements, muscle atrophy, fasciculations, and/or diminished reflexes, most often in the context of normal cognitive function. The HPO term does not distinguish between these etiologies. Additional HPO terms should be used as required to describe associated features. |
HP:0003808 |
| HPO |
HP:0012771 |
Increased arm span |
"Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)." [HPO:probinson] |
— |
HP:0012769 |
| HPO |
HP:0001518 |
Small for gestational age |
"Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age." [DDD:hfirth] |
— |
HP:0004325 |
| HPO |
HP:0001181 |
Adducted thumb |
"In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger." [PMID:19125433] |
The thumb is both flexed and adducted. Lesser degrees of adduction than that specified here may warrant the use of this term, for example, when the tip of the thumb lies near the base of F2 or F3. |
HP:0001172 |
| HPO |
HP:0001713 |
Abnormal cardiac ventricle morphology |
"An abnormality of a cardiac ventricle." [HPO:probinson] |
— |
HP:0001627 |
| HPO |
HP:0011003 |
High myopia |
"A severe form of myopia with greater than -6.00 diopters." [DDD:ncarter] |
— |
HP:0000545 |
| HPO |
HP:0001083 |
Ectopia lentis |
"Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation." [HPO:probinson] |
— |
HP:0000517 |
| HPO |
HP:0030961 |
Microspherophakia |
"Lens of the eye is smaller than normal and spherically shaped." [] |
— |
HP:0008063 |
| HPO |
HP:0000189 |
Narrow palate |
"Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective)." [PMID:19125428] |
Palatal width is measured as the distance between the maxillary first permanent molar on the right and left sides, at the lingual cervical line, using a specific device. Palate width is typically assessed subjectively in routine clinical practice. Narrowing is often associated with a High palate, but this should be assessed and coded separately. Gingival overgrowth can give the impression of a narrow palate but should be distinguished and coded separately. The term gothic palate is used to indicate that the roof of the palate is not round but rather has an inverted V-shape, and therefore, only the upper part of the palate is narrow. |
HP:0000174 |
| HPO |
HP:0002938 |
Lumbar hyperlordosis |
"An abnormal accentuation of the inward curvature of the spine in the lumbar region." [HPO:probinson] |
— |
HP:0003307 |
| HPO |
HP:0001065 |
Striae distensae |
"Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders." [HPO:probinson] |
— |
HP:0004334, HP:0100679 |