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Ontology for the description of human clinical features
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NTR: Prenatal ultrasound: placental cysts (Lab: radiology) #9007

Closed pnrobinson closed 5 months ago

pnrobinson commented 1 year ago

New term request Prenatal ultrasound: placental cysts (elthat_160819053023): Cystic UMLS: 1394410

pnrobinson commented 7 months ago

@MickeySegal @sparkste there is one existing term Subchorionic septal cyst HP:0030720 for placental cysts, however I wonder if we need to create a small hierarchy for different types?

MickeySegal commented 7 months ago

We have this only for Beckwith-Wiedemann syndrome, where we also have https://hpo.jax.org/app/browse/term/HP:0032165. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9688415/ says that for Placental Mesenchymal Dysplasia "In some cases, grape-like cysts formed by dilatation of the hydropic stem villi are present".

sparkste commented 7 months ago

Hi all,

Totally agree that placental mesenchymal dysplasia can be seen with BWS. The other scenario where I have seen placental mesenchymal dysplasia (clinically and in the literature) is androgenic mosaicism (PMID 21585278). Of note, the cystic changes that are seen with a molar pregnancy can be confused for mesenchymal dysplasia, and I wonder if there is separate branching logic for the cystic placental changes that are seen with a molar pregnancy?

Thanks! Teresa

Teresa Sparks, MD, MAS Associate Professor, Maternal-Fetal Medicine and Clinical Genetics Program Director, Maternal-Fetal Medicine Fellowship Co-Director, Women's Reproductive Health Research/K12 Program Division of Maternal-Fetal Medicine and Reproductive Genetics University of California, San Francisco

From: MickeySegal @.> Sent: Tuesday, February 13, 2024 7:50 AM To: obophenotype/human-phenotype-ontology @.> Cc: Sparks, Teresa @.>; Mention @.> Subject: Re: [obophenotype/human-phenotype-ontology] NTR: Prenatal ultrasound: placental cysts (Lab: radiology) (Issue #9007)

We have this only for Beckwith-Wiedemann syndrome, where we also have https: //hpo. jax. org/app/browse/term/HP: 0032165. https: //www. ncbi. nlm. nih. gov/pmc/articles/PMC9688415/ says that for Placental Mesenchymal Dysplasia "In some cases, grape-like ZjQcmQRYFpfptBannerStart This Message Is From an External Sender This message came from outside your organization.

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We have this only for Beckwith-Wiedemann syndrome, where we also have https://hpo.jax.org/app/browse/term/HP:0032165https://urldefense.com/v3/__https://hpo.jax.org/app/browse/term/HP:0032165__;!!LQC6Cpwp!rk1Q54jbCXUsF9OrDv0-EK6mf9tAqeoyA5YPv_XXx2T-G_t9j62QU0IQ4WkBc0SkW-T1EzGsZGmaQ4r9z53sM58cOOOn$. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9688415/https://urldefense.com/v3/__https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9688415/__;!!LQC6Cpwp!rk1Q54jbCXUsF9OrDv0-EK6mf9tAqeoyA5YPv_XXx2T-G_t9j62QU0IQ4WkBc0SkW-T1EzGsZGmaQ4r9z53sM0yLm0np$ says that for Placental Mesenchymal Dysplasia "In some cases, grape-like cysts formed by dilatation of the hydropic stem villi are present".

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pnrobinson commented 5 months ago

@MickeySegal For BWS, the term Placental mesenchymal dysplasia HP:0032165 is available and is intended to include the cystic lesions. Admittedly it is a bit of a bundled term, but perhaps it is forgivable in this case. @sparkste we may want to think more about placental lesions moving forward, but then prob. a workshop or zoom would be better than issues!