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Digital amputation #10961

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carolina-f opened this issue Jan 14, 2025 · 0 comments
Open

Digital amputation #10961

carolina-f opened this issue Jan 14, 2025 · 0 comments
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@carolina-f
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Preferred term label:
See issue #10960

Synonyms
toe amputation
finger amputation

Definition (free text, please give PubMed ID)
PMID: 31424867 Constriction rings and limb or digital amputation are the most common findings, present in at least 80 percent of cases. The amniotic bands may be present, confined to the skin or soft tissue, and extend deep into the tissue. If constriction results in amputation in utero, then the amputated part is usually resorbed and not visible following birth.

PMID: 31407870 The phenotypic presentation in the extremities has considerable variation which can range from simple constriction rings to more complex scenarios. This includes circumferential constriction rings, which can lead to distal ischemia resulting in significant edema and/or limb and digital amputations.

PMID: 31787161 A constellation of multiple fetal abnormalities, particularly asymmetric limb and digital amputations and constrictions, should make one suspect amniotic band sequence.

Parent term (use hpo.jax.org/app)
Congenital amputation issue #10960

Diseases characterized by this term ? (e.g. Orphanet or OMIM number)
OMIM 217100 CONSTRICTING BANDS, CONGENITAL
ORPHA:295000 Amniotic band syndrome

Your nano-attribution (ORCID)
0009-0005-6714-5727

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