| HPO |
HP:0011819 |
Submucous cleft soft palate |
"A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue." [HPO:probinson] |
Often, submucous cleft palate is associated with bifid uvula, but this should be coded separately. The muscles of the soft palate may not function properly, leading to speech problems, middle ear disease, and swallowing difficulties. |
HP:0000185 |
| HPO |
HP:0011820 |
Membranous choanal atresia |
"Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike." [DDD:jhurst] |
— |
HP:0000453 |
| HPO |
HP:0011821 |
Abnormality of facial skeleton |
"An abnormality of one or more of the set of bones that make up the facial skeleton." [DDD:awilkie] |
The facial skeleton comprises the mandible, maxilla, frontal bone, nasal bones, and zygoma, as well as the inferior nasal concha, the lacrimal bones, the palatine bone, and the vomer. |
HP:0000929 |
| HPO |
HP:0011822 |
Broad chin |
"Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue." [PMID:19125436] |
— |
HP:0000306 |
| HPO |
HP:0011823 |
Chin with horizontal crease |
"Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest." [PMID:19125436] |
— |
HP:0000306 |
| HPO |
HP:0011824 |
Chin with H-shaped crease |
"H-shaped crease in the fat pad of the chin." [PMID:19125436] |
The H-shape must be distinguished from Vertical crease of the chin. |
HP:0000306 |
| HPO |
HP:0011825 |
Tented philtrum |
"Prominence of a triangular soft tissue area of the philtrum with the apex to the columella." [PMID:19152422] |
A tented philtrum may accompany a Smooth philtrum. If present this should be coded separately. |
HP:0000288 |
| HPO |
HP:0011826 |
Philtrum with midline raphe |
"Narrow ridge in the midline of the philtral groove." [PMID:19152422] |
The ridge may be very subtly elevated. |
HP:0000288 |
| HPO |
HP:0011827 |
Malaligned philtral ridges |
"Absence of the usual parallel position of philtral ridges." [PMID:19152422] |
Hajnis [1972] has described downwards convergent, downwards divergent (trapezoid or triangular), convex (ovoid), and concave philtral configurations. Any of these findings may be coded using this term. |
HP:0000288 |
| HPO |
HP:0011828 |
Midline sinus of philtrum |
"Pit in the midline of the philtral groove." [PMID:19152422] |
Although congenital sinuses of the lips generally occur in the lower lip, in rare instances they may appear in the philtrum of the upper lip, commonly close to the insertion of the columella. |
HP:0000288 |
| HPO |
HP:0011829 |
Narrow philtrum |
"Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum." [PMID:19152422] |
Although congenital sinuses of the lips generally occur in the lower lip, in rare instances they may appear in the philtrum of the upper lip, commonly close to the insertion of the columella. |
HP:0000288 |
| HPO |
HP:0011830 |
Abnormal oral mucosa morphology |
"Abnormality of the oral mucosa." [HPO:probinson] |
— |
HP:0000163 |
| HPO |
HP:0011831 |
Deviated nasal tip |
"Nasal tip positioned to one side of the midline." [PMID:19152422] |
There is no specific minimal angle before the tip can be determined to be deviated. The assessment of a mild degree of deviation is highly dependant on the experience of the observer. A deviated nasal septum can accompany a deviated nasal tip. |
HP:0000436 |
| HPO |
HP:0011832 |
Narrow nasal tip |
"Decrease in width of the nasal tip." [PMID:19152422] |
Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. |
HP:0000436 |
| HPO |
HP:0011833 |
Overhanging nasal tip |
"Positioning of the nasal tip inferior to the nasal base." [PMID:19152422] |
This finding is often associated with a long nasal ridge. It is best appreciated in profile. This may also coexist with a Depressed nasal tip and Low insertion of the columella and should be coded separately. |
HP:0000436 |
| HPO |
HP:0011834 |
Moyamoya phenomenon |
"A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis." [HPO:probinson] |
Cerebral angiography shows puff-of-smoke (moyamoya) collaterals at the base of the brain. |
HP:0009145 |
| HPO |
HP:0011835 |
Absent scaphoid |
"Congenital absence of the scaphoid.." [DDD:jcampbell] |
— |
HP:0004231 |
| HPO |
HP:0011836 |
Delayed talus ossification |
"Delayed maturation and calcification of the talus." [HPO:probinson] |
— |
HP:0008365, HP:0008369 |
| HPO |
HP:0011837 |
Partial IgA deficiency |
"Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means." [HPO:probinson] |
— |
HP:0002720 |
| HPO |
HP:0011838 |
Sclerodactyly |
"Localized thickening and tightness of the skin of the fingers or toes." [HPO:probinson] |
— |
HP:0001072 |
| HPO |
HP:0011839 |
Abnormal T cell count |
"A deviation from the normal count of T cells." [HPO:probinson] |
— |
HP:0002843, HP:0040088 |
| HPO |
HP:0011840 |
Abnormality of T cell physiology |
"A functional anomaly of T cells." [HPO:probinson] |
— |
HP:0031409 |
| HPO |
HP:0011841 |
Ventricular flutter |
"A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance." [HPO:probinson] |
If untreated, ventricular flutter typically progresses to ventricular fibrillation. |
HP:0004756 |
| HPO |
HP:0011842 |
Abnormality of skeletal morphology |
"An abnormality of the form, structure, or size of the skeletal system." [HPO:probinson] |
— |
HP:0000924 |
| HPO |
HP:0011843 |
Abnormality of musculoskeletal physiology |
"An abnormality of the function of the skeletal system." [HPO:probinson] |
— |
HP:0000924 |