From HPO
Cryptorchidism- MedGen UID:
- 8192
- •Concept ID:
- C0010417
- •
- Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Tapered finger- MedGen UID:
- 98098
- •Concept ID:
- C0426886
- •
- Finding
The gradual reduction in girth of the finger from proximal to distal.
Limb hypertonia- MedGen UID:
- 333083
- •Concept ID:
- C1838391
- •
- Finding
Growth delay- MedGen UID:
- 99124
- •Concept ID:
- C0456070
- •
- Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Constipation- MedGen UID:
- 1101
- •Concept ID:
- C0009806
- •
- Sign or Symptom
Infrequent or difficult evacuation of feces.
Feeding difficulties- MedGen UID:
- 65429
- •Concept ID:
- C0232466
- •
- Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Gastroesophageal reflux- MedGen UID:
- 1368658
- •Concept ID:
- C4317146
- •
- Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Spasticity- MedGen UID:
- 7753
- •Concept ID:
- C0026838
- •
- Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Syringomyelia- MedGen UID:
- 21449
- •Concept ID:
- C0039144
- •
- Disease or Syndrome
Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.
Encephalopathy- MedGen UID:
- 39314
- •Concept ID:
- C0085584
- •
- Disease or Syndrome
Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
Hyperreflexia- MedGen UID:
- 57738
- •Concept ID:
- C0151889
- •
- Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Hypoplasia of the corpus callosum- MedGen UID:
- 138005
- •Concept ID:
- C0344482
- •
- Congenital Abnormality
Underdevelopment of the corpus callosum.
Global developmental delay- MedGen UID:
- 107838
- •Concept ID:
- C0557874
- •
- Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Delayed myelination- MedGen UID:
- 224820
- •Concept ID:
- C1277241
- •
- Finding
Delayed myelination.
Reduced eye contact- MedGen UID:
- 303190
- •Concept ID:
- C1445953
- •
- Finding
A reduced frequency or duration of eye contact.
Absent speech- MedGen UID:
- 340737
- •Concept ID:
- C1854882
- •
- Finding
Complete lack of development of speech and language abilities.
Simplified gyral pattern- MedGen UID:
- 413664
- •Concept ID:
- C2749675
- •
- Finding
An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.
Ventriculomegaly- MedGen UID:
- 480553
- •Concept ID:
- C3278923
- •
- Finding
An increase in size of the ventricular system of the brain.
Cerebral cortical atrophy- MedGen UID:
- 1646740
- •Concept ID:
- C4551583
- •
- Disease or Syndrome
Atrophy of the cortex of the cerebrum.
Reduced cerebral white matter volume- MedGen UID:
- 1815057
- •Concept ID:
- C5706151
- •
- Finding
An abnormally low volume of the white matter of the brain.
Kyphoscoliosis- MedGen UID:
- 154361
- •Concept ID:
- C0575158
- •
- Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Progressive microcephaly- MedGen UID:
- 340542
- •Concept ID:
- C1850456
- •
- Anatomical Abnormality
Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.
Enlarged cisterna magna- MedGen UID:
- 344031
- •Concept ID:
- C1853377
- •
- Finding
Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata.
Axial hypotonia- MedGen UID:
- 342959
- •Concept ID:
- C1853743
- •
- Finding
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
Microcephaly- MedGen UID:
- 1644158
- •Concept ID:
- C4551563
- •
- Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Bulbous nose- MedGen UID:
- 66013
- •Concept ID:
- C0240543
- •
- Finding
Increased volume and globular shape of the anteroinferior aspect of the nose.
High palate- MedGen UID:
- 66814
- •Concept ID:
- C0240635
- •
- Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Short neck- MedGen UID:
- 99267
- •Concept ID:
- C0521525
- •
- Finding
Diminished length of the neck.
Underdeveloped nasal alae- MedGen UID:
- 322332
- •Concept ID:
- C1834055
- •
- Congenital Abnormality
Thinned, deficient, or excessively arched ala nasi.
Narrow forehead- MedGen UID:
- 326956
- •Concept ID:
- C1839758
- •
- Finding
Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).
Widely spaced teeth- MedGen UID:
- 337093
- •Concept ID:
- C1844813
- •
- Finding
Increased spaces (diastemata) between most of the teeth in the same dental arch.
Long palpebral fissure- MedGen UID:
- 340300
- •Concept ID:
- C1849340
- •
- Finding
Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.
Wide nasal bridge- MedGen UID:
- 341441
- •Concept ID:
- C1849367
- •
- Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Short nose- MedGen UID:
- 343052
- •Concept ID:
- C1854114
- •
- Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Low hanging columella- MedGen UID:
- 344656
- •Concept ID:
- C1856119
- •
- Finding
Columella extending inferior to the level of the nasal base, when viewed from the side.
Thin upper lip vermilion- MedGen UID:
- 355352
- •Concept ID:
- C1865017
- •
- Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Highly arched eyebrow- MedGen UID:
- 358357
- •Concept ID:
- C1868571
- •
- Finding
Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
Synophrys- MedGen UID:
- 98132
- •Concept ID:
- C0431447
- •
- Congenital Abnormality
Meeting of the medial eyebrows in the midline.
Long eyelashes- MedGen UID:
- 342955
- •Concept ID:
- C1853738
- •
- Finding
Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).
Esotropia- MedGen UID:
- 4550
- •Concept ID:
- C0014877
- •
- Disease or Syndrome
A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
Proptosis- MedGen UID:
- 41917
- •Concept ID:
- C0015300
- •
- Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Hypermetropia- MedGen UID:
- 43780
- •Concept ID:
- C0020490
- •
- Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
Nystagmus- MedGen UID:
- 45166
- •Concept ID:
- C0028738
- •
- Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Strabismus- MedGen UID:
- 21337
- •Concept ID:
- C0038379
- •
- Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Cerebral visual impairment- MedGen UID:
- 890568
- •Concept ID:
- C4048268
- •
- Pathologic Function
A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality