Sonographic renal salt and pepper pattern

obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features

http://obophenotype.github.io/human-phenotype-ontology/

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Sonographic renal salt and pepper pattern #7361

Closed pnrobinson closed 6 months ago

pnrobinson commented 2 years ago

Preferred term label: Sonographic renal salt and pepper pattern Synonyms

Definition (free text, please give PubMed ID) Heterogeneous, increased parenchymal echogenicity. This imaging appearance is caused by multiple tiny cysts smaller than or just approaching the size necessary for detection, which disrupt the echo pattern without being clearly distinguishable, and appear as white "grains" on renal ultrasound, mainly in a subcapsular location.

PMID:30599104 PMID:22034641

Comment: See Figure 2 of PMID:22034641 and Figure 11 of PMID:30599104.

Parent term (use hpo.jax.org/app) Abnormal renal echogenicity HP:0033130

Diseases characterized by this term ? (e.g. Orphanet or OMIM number)

Ascertained by 1. renal ultrasonography, 2. prenatal renal ultrasonography

Your nano-attribution (ORCID)

monicacecilia commented 2 years ago

Would like validation from an ultrasound expert.
Do we need synonyms?
- Consider inclusion of a medical term describing the phenotype as ‘preferred’ name, instead of the more colloquial ‘salt and pepper’
- E.g., stippled; stippled pattern; speckled appearance of tissue
The "salt and pepper" pattern on renal ultrasound in a group of children with molecular-proven diagnosis of ciliopathy-related renal diseases - https://pubmed.ncbi.nlm.nih.gov/32040628/
“Salt and pepper” is used for other conditions - ensure disambiguation of the name

pnrobinson commented 6 months ago

The term is valid, we can return to add synonyms during a workshop! Adding new term:

ID: HP:6000368
label: Sonographic renal salt and pepper pattern
parents: Abnormal renal echogenicity (HP:0033130)
pmid: PMID:30599104|PMID:22034641
def: Heterogeneous, increased parenchymal echogenicity. This imaging appearance is caused by multiple tiny cysts smaller than or just approaching the size necessary for detection, which disrupt the echo pattern without being clearly distinguishable, and appear as white grains on renal ultrasound, mainly in a subcapsular location.
comment: See Figure 2 of PMID:22034641 and Figure 11 of PMID:30599104.
orcid: orcid:0000-0002-0736-9199
github ID: https://github.com/obophenotype/human-phenotype-ontology/issues/7361
synonyms: