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TheJacksonLaboratory / hpo-web

a web application to search and navigate the Human Phenotype Ontology (HPO)
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new terms: Diffusion weighted MRI Abnormality #101

Closed yankeetomer closed 4 years ago

yankeetomer commented 4 years ago

HPO does not currently have any entries that describe DWI abnormalities.

  1. Preferred term label Diffusion weighted MRI Abnormality

  2. Synonyms

Diffusion weighted magnetic resonance imaging (DWI) abnormality Diffusion weighted imaging (DWI) abnormality MRI diffusion abnormality

Drug resistance

  1. Textual definition (should be understandable even for non-specialists, please include a PubMed ID for relevant articles providing additional information about the suggestion) Neurol Clin Pract. 2012 Dec; 2(4): 287–293. doi: 10.1212/CPJ.0b013e318278bee1 :

Restricted diffusion is an imaging finding typically associated with acute cerebral infarction. Less frequently this MRI abnormality is seen with other conditions including neoplasms, intracranial infections, traumatic brain injury, and demyelinating processes.

The vast majority of restricted-diffusion abnormalities result from acute stroke, and as such, the diagnosis may be problematic when this MRI feature results from other causes. Distinct patterns of restricted diffusion seen with various disease conditions can play an important diagnostic role. The association of certain diseases with a given restricted-diffusion pattern allows for a focused assessment to determine a specific etiology.

  1. Parent term Abnormality of brain morphology HP:0012443 (http://compbio.charite.de/hpoweb/showterm?id=HP:0012443)

  2. Which diseases are characterized by this term ? (e.g. Orphanet- or OMIM-id) One example: Leigh Syndrome in a recent article appearing in Genetics in Medicine: "Axial diffusion-weighted imaging (F) shows bilateral symmetrical diffusion restriction in the putamina, thalami, and hippocampal tails" https://www.sciencedirect.com/science/article/pii/S0002929719304653 DOI:https://doi.org/10.1016/j.ajhg.2019.12.001

  3. Your nano-attribution Tomer Talmy M.D. Organization: Emedgene Technologies ORCID: https://orcid.org/0000-0002-7440-8864

iimpulse commented 4 years ago

Hi @yankeetomer are you able to recreate this request here. https://github.com/obophenotype/human-phenotype-ontology/issues with the tag new term request? Thanks!

yankeetomer commented 4 years ago

Added as new term request, this issue can can now be closed