nicolevasilevsky
commented
6 years ago @GARDInfoCenter I reviewed all the terms, I think the terms below look good. @pnrobinson would you mind looking at these and let me know if they are okay to add? I will add them once you give me the okay.
| HPO term | Suggested layperson synonym |
|---|---|
| Adult onset | symptoms begin in adulthood |
| Aganglionic megacolon | enlarged colon lacking nerve cells |
| Anemia | low number of red blood cells or hemoglobin |
| Astigmatism | abnormal curving of the cornea or lens of the eye |
| Blue sclerae | whites of eyes are bluish-gray color |
| Brachydactyly | short fingers or toes |
| Bronchiectasis | permanent enlargement of the airways of the lungs |
| Cafe-au-lait spot | flat light-brown birthmarks |
| Camptodactyly | permanent flexion of the finger or toe |
| Camptodactyly of finger | permanent flexion of the finger |
| Cardiomyopathy | disease of the heart muscle |
| Cerebral calcification | abnormal deposits of calcium in the brain |
| Cerebral cortical atrophy | decrease in size of the outer layer of the brain due to loss of nerve cells |
| Childhood onset | symptoms begin in childhood |
| Chorioretinal coloboma | birth defect that causes hole in part of the eye |
| Chronic otitis media | chronic infections of the middle ear |
| Cirrhosis | scar tissue replaces healthy tissue in the liver |
| Clinodactyly | permanent curving of the finger |
| Clinodactyly of the 5th finger | permanent curving of the pinkie finger |
| Clitoral hypertrophy | enlarged clitoris |
| Congenital cataract | clouding of the lens of the eye at birth |
| Congenital onset | symptoms present at birth |
| Conjunctivitis | pink eye |
| Craniofacial hyperostosis | excessive bone growth of the skull and face |
| Dilated cardiomyopathy | stretched and thinned heart muscle |
| Erythema | redness of skin or mucous membrane |
| Foot dorsiflexor weakness | foot drop |
| Gynecomastia | enlarged male breast |
| Hydrocephalus | too much cerebrospinal fluid in the brain |
| Hypertrophic cardiomyopathy | enlarged and thickened heart muscle |
| Nystagmus | involuntary, rapid, rhythmic eye movements |
| Pes cavus | high-arched foot |
| Postaxial foot polydactyly | extra toe attached near the little toe |
| Posteriorly rotated ears | ears rotated toward back of head |
| Spasticity | involuntary muscle stiffness, contraction, or spasm |
| Atrial septal defect | an opening in the wall separating the top two chambers of the heart |
| Bicuspid aortic valve | aortic valve has two leaflets rather than three |
There are a few terms where I had suggestion revisions:
| HPO term | Suggested layperson synonym | Suggested revision |
|---|---|---|
| Anal atresia | absent or misplaced anus | Absent anus |
| Proximal placement of thumb | attachment of thumb is closer to the wrist than is typical | Attachment of thumb close to wrist |
| Distal sensory impairment | decreased sensation in the distant parts of the body (e.g., arms and legs) | decreased sensation in extremities |
| Pulmonary arterial hypertension | increased blood pressure in the blood vessels of the lungs | increased blood pressure in blood vessels of lungs |
| Aminoaciduria | abnormally high levels of amino acids in the urine | Increased levels of animo acids in urine |
| Dysmetria | lack of coordination of movement (e.g. undershoot or overshoot movement) | lack of coordination of movement |
| Coarctation of aorta | birth defect where part of the aorta is narrowed | Narrowing of the main heart artery |
| Brachycephaly | shorter and broader skull shape than typical | short and broad skull |
| Dolichocephaly | taller and narrower skull shape than typical | Tall and narrow skull |
@GARDInfoCenter and @pnrobinson - will you let me know if the suggested revisions look okay?
Attached is the spreadsheet with additional notes, for the synonyms that may not be a good fit for HPO (and I had a question on a few of them as well).
pnrobinson
GARDInfoCenter
@nicolevasilevsky , we reviewed 134 HPO Medical Terms and translated 91 of them into plain language. The remaining terms were not translated because either: (1) the HPO medical term was too vague and the translation may not work for all instances of its use, or (2) because to make the medical term lay friendly it would require a definition and not just a translation. We are attaching an Excel spreadsheet with the details. We realize that some of the translations may be lengthier than you would like; however, we have included them as a way to gain a better understanding of character limit, criteria to use when translating the medical terms, etc.
These terms appear on 25+ GARD disease webpages.
Thanks, Maria HPO Medical Terms 25+_1 to 134.xlsx