| HPO |
HP:0001623 |
Breech presentation |
"A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first." [HPO:probinson] |
— |
HP:0001787 |
| HPO |
HP:0000960 |
Sacral dimple |
"A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft." [HPO:probinson, PMID:28245993] |
— |
HP:0010767, HP:0010781 |
| HPO |
HP:0005235 |
Jejunal atresia |
"A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum." [HPO:probinson] |
— |
HP:0005265, HP:0011100 |
| HPO |
HP:0000028 |
Cryptorchidism |
"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum." [HPO:probinson, PMID:23650202] |
The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical) procedures for assessment. |
HP:0000035 |
| HPO |
HP:0001195 |
Single umbilical artery |
"Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord." [HPO:probinson] |
The umbilical cord normally has two arteries and one vein. |
HP:0010948, HP:0011403, HP:0011425 |
| HPO |
HP:0009778 |
Short thumb |
"Hypoplasia (congenital reduction in size) of the thumb." [HPO:probinson] |
— |
HP:0009381, HP:0009601 |
| HPO |
HP:0012622 |
Chronic kidney disease |
"Functional anomaly of the kidney persisting for at least three months." [Eurenomics:ewuehl] |
— |
HP:0000083 |
| HPO |
HP:0002162 |
Low posterior hairline |
"Hair on the neck extends more inferiorly than usual." [PMID:19125436] |
This feature is often seen in later childhood, as the neck lengthens, in an individual who was born with redundant nuchal skin, which should be assessed and coded separately. |
HP:0000464, HP:0030141 |
| HPO |
HP:0025429 |
Abnormal cry |
"Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation." [] |
— |
HP:0001608 |
| HPO |
HP:0000041 |
Chordee |
"Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees." [HPO:probinson, PMID:23650202] |
The degree of variation of penis curvature is a continuum, but traditionally 30 degrees is considered the threshold for surgical intervention on chordee. Bowing usually becomes more obvious in an erect penis, but is frequently also palpable when stretching a flaccid penis. Chordee can be congenital or acquired; if the former, it can be associated with Webbed Penis or Hypospadias, which should be coded separately. |
HP:0000036 |
| HPO |
HP:0001561 |
Polyhydramnios |
"The presence of excess amniotic fluid in the uterus during pregnancy." [HPO:probinson] |
Polyhydramnios is diagnosed if the deepest vertical pool of amniotic fluid is more than 8 cm or amniotic fluid index is more than 95th percentile for the corresponding gestational age. |
HP:0001560 |
| HPO |
HP:0000601 |
Hypotelorism |
"Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes)." [HPO:probinson, PMID:19125427] |
— |
HP:0100886 |
| HPO |
HP:0001642 |
Pulmonic stenosis |
"A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis)." [HPO:probinson] |
Infundibular pulmonic stenosis is mostly caused by overgrowth of the heart muscle wall (hypertrophy of the septoparietal trabeculae). Pulmonic stenosis is often seen as a part of Fallot' s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. This malformation is infrequently described as sub-pulmonary stenosis or subpulmonary obstruction. |
HP:0031654 |
| HPO |
HP:0001643 |
Patent ductus arteriosus |
"In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences." [HPO:probinson, PMID:20421261] |
— |
HP:0011603 |
| HPO |
HP:0002099 |
Asthma |
"Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing." [HPO:probinson] |
— |
HP:0002795, HP:0100326 |
| HPO |
HP:0000316 |
Hypertelorism |
"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes)." [PMID:19125427] |
— |
HP:0100886 |
| HPO |
HP:0001511 |
Intrauterine growth retardation |
"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age." [HPO:probinson] |
Intrauterine growth restriction is a newer term that is preferred over Intrauterine growth retardation. The causes of IUGR include maternal abnormalities (chronic hypertension, cyanotic heart disease, smoking, drug abuse), placental or umbilical cord abnormalities (including placenta previa and cord anomalies), maternal medicationas, and genetic disorders of the fetus. |
HP:0001510 |
| HPO |
HP:0002036 |
Hiatus hernia |
"The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus." [HPO:probinson] |
A tendency for the upper part of the stomach to herniate into the thorax because of a weakness of the esophageal hiatus, which is the hole in the diaphragm through which the esophagus passes. Hiatus hernia can be asymptomatic or can lead to acid reflux symptoms (heartburn). |
HP:0002577, HP:0100790 |
| HPO |
HP:0006528 |
Chronic lung disease |
"According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities." [IMM:tkuijpers] |
— |
HP:0002795 |
| HPO |
HP:0010808 |
Protruding tongue |
"Tongue extending beyond the alveolar ridges or teeth at rest." [PMID:19125428] |
Protruding tongue may or may not be associated with a Large tongue, and that finding should be assessed and coded separately. |
HP:0030809 |
| HPO |
HP:0000047 |
Hypospadias |
"Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum." [HPO:probinson, PMID:21968448] |
— |
HP:0100627 |
| HPO |
HP:0002750 |
Delayed skeletal maturation |
"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
— |
HP:0000927 |
| HPO |
HP:0000294 |
Low anterior hairline |
"Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella." [PMID:19125436] |
This feature gives the appearance of a short forehead. It is distinct from hirsutism of the forehead. In the latter, orientation of hair growth is lateral and texture and density of hair differs from scalp hair. |
HP:0000599 |
| HPO |
HP:0000938 |
Osteopenia |
"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5." [HPO:probinson, PMID:21234807] |
— |
HP:0004349 |
| HPO |
HP:0004810 |
Congenital hypoplastic anemia |
"A type of hypoplastic anemia with congenital onset." [HPO:probinson] |
In this condition, hematopoiesis must have been inadequate in fetal life. Affected infant have marked pallor and reticulocytopenia or absence of red blood cell precursors in an otherwise normally cellular bone marrow. This term does not refer to a particular diagnosis or etiology (or which several are known) but to the phenotypic feature. |
HP:0001908 |