Evidence map›Paper›PMID 42520256›Full record

ArticleJMIR medical informatics2026

Diagnostic Code Ambiguity and Misclassification of Adults With Spinal Muscular Atrophy: Single-Center Chart Review.

Gabriel Holly, Bryce Bean, Haidy Beshay, Gabrielle Edwards, Nicholas Streicher

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in JMIR medical informatics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Gabriel HollyDepartment of Neurology, School of Medicine, Georgetown University, 3800 Reservoir Rd., Washington, DC, United States, 1 202-877-1212.ORCID 0009-0002-7006-4432
Bryce BeanMedStar Health Research Institute, Washington, DC, United States.ORCID 0009-0004-0394-7774
Haidy BeshayDepartment of Neurology, School of Medicine, Georgetown University, 3800 Reservoir Rd., Washington, DC, United States, 1 202-877-1212.ORCID 0009-0001-7537-8388
Gabrielle EdwardsMedStar Health Research Institute, Washington, DC, United States.ORCID 0000-0001-6737-0776
Nicholas StreicherDepartment of Neurology, School of Medicine, Georgetown University, 3800 Reservoir Rd., Washington, DC, United States, 1 202-877-1212.ORCID 0009-0006-3321-7064

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Unlabelled: In a single US health system, fewer than one in three adults flagged by spinal muscular atrophy-associated diagnostic codes had molecularly confirmed spinal muscular atrophy (positive predictive value 27%), with the majority miscoded across clinically distinct categories.

Indexed as

Clinical CodingDiagnostic ErrorsMuscular Atrophy, SpinalAdultHumansInternational Classification of Diseasesclinical codingcohort identificationdiagnostic miscodingdisease-modifying therapyelectronic health recordsICD-10International Classification of Diseasesnatural language processingrare diseasessecondary use of clinical dataSMN1spinal muscular atrophy

Identifiers

PMID42520256
PMCPMC13412007

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.