ArticleJournal of inherited metabolic disease2018
The rendering of human phenotype and rare diseases in ICD-11.
Article in Journal of inherited metabolic disease, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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.
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.
Who cites it
11 citing papers in PubMed.
- ICD-11 pilot in West China: feasibility evaluation and implications for future implementation.Scientific reports · 2026Article
- Quantifying coding integrity and reliability of ICD-11 MMS for rare disease registration: a case study of the Chinese rare disease catalogue.BMC medical informatics and decision making · 2025Article
- Argo Delphi consensus statement on red flags and clinical gateways towards rare disease diagnosis.Scientific reports · 2025Article
- Big data approaches for novel mechanistic insights on sleep and circadian rhythms: a workshop summary.Sleep · 2025Article
- Assessing the impact of transitioning to 11th revision of the International Classification of Diseases (ICD-11) on comorbidity indices.Journal of the American Medical Informatics Association : JAMIA · 2024Article
- Improvements in Neoplasm Classification in the International Classification of Diseases, Eleventh Revision: Systematic Comparative Study With the Chinese Clinical Modification of the International Classification of Diseases, Tenth Revision.Interactive journal of medical research · 2024Article
- The novel and powerful ICD-11 classification system for neoplasm coding: a comparative study with the ICD-O.BMC medical informatics and decision making · 2022Article
- Automated clinical coding: what, why, and where we are?NPJ digital medicine · 2022Review
- Enhanced rare disease mapping for phenome-wide genetic association in the UK Biobank.Genome medicine · 2022Article
- ICD-11: an international classification of diseases for the twenty-first century.BMC medical informatics and decision making · 2021Review
- Research Progress on Classical Traditional Chinese Medicine Jieyu Pills in the Treatment of Depression.Neuropsychiatric disease and treatment · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
Abstract
ICD-11 (International Classification of Diseases, 11th Revision) is the next major revision of the ICD by the World Health Organization (WHO). ICD-11 differs dramatically from historical versions, as it is based on an underlying semantic network of terms and meaning, called the Foundation. To function as a mutually exclusive and exhaustive statistical classification, ICD-11 creates derivative linearizations from the network that is a monohierarchy with residual categories such as Not Elsewhere Classified. ICD-11 also introduces the widespread post-coordination of terms, which allows for highly expressive representation of detailed patient descriptions. Phenotyping features are included in many subchapters or the signs and symptoms chapter. Composite phenotype descriptions of specific presentations or syndromes can be represented though post-coordination. Rare diseases are well represented in the Foundation, though not all appear in the relatively shallow linearization hierarchies.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.