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Research draft

syndrome

vr.tr.syndrome · INF.KNW

Let an agent handle syndromes as clinical categories with codes, features and causes, give only general information, and direct individual questions to clinicians.

Thing Registry Information and virtual systems

Research draft, second pass

A second pass drafted this model: the structure a model of this thing needs, and what is known about it in the world. The line under this one says how the second half was obtained - researched against sources, or recalled without web access, in which case nothing here was read anywhere and every claim is a lead to verify. Unreviewed either way.

written by Claude from model knowledge without web access - no source was read, every claim is a lead to verify

Researched by: Claude

Purpose and description

Let an agent handle syndromes as clinical categories with codes, features and causes, give only general information, and direct individual questions to clinicians.

A set of medical signs and symptoms that occur together and characterise a particular condition, sometimes with a known cause (such as a genetic syndrome) and sometimes not.

What it is for: Recognising patterns of symptoms to guide diagnosis, care and research.

It can be diagnose it, by clinicians; classify it, with codes; support affected people and families; research its causes.

Distinguishing features

A pattern of features occurring together

Cause may be known or unknown

Many are rare diseases

Features vary between individuals

What it looks like

No single appearance; features vary by syndrome and person.

How it is recognised

Only clinical assessment establishes a syndrome

Codes in ICD-11 or Orphanet

Named syndromes such as Bloom syndrome

Related models

is a kind of - condition

disease

is made of - features

symptom

can be caused by - genetic

mutation

is classified by - codes

ICD-11 and Orphanet

In practice

Families and kinds

genetic syndromes

syndromes of unknown cause

neurocutaneous syndromes

tumour predisposition syndromes

Identifiers

ORPHAcode numeric rare diseases

OMIM number six digits genetic conditions

ICD-11 code alphanumeric WHO

Standards and regulation

WHO ICD-11

EU rare disease policies and European Reference Networks

Health data protection law

Failure modes and hazards

Self-diagnosis from lists of features

Stigmatising descriptions

Outdated names

Also called

Bloom syndromeSchimmelpenning syndromemultiple hamartoma syndromefocal dermal hypoplasiamelanoma and neural system tumor syndromeadenoma sebaceumCarney-Stratakis syndromeNAME syndromeCarney complexCHILD syndromejuvenile polyposis-hereditary hemorrhagic telangiectasia syndromeProteus-like syndromeN syndromehereditary breast ovarian cancerprogeroid features-hepatocellular carcinoma predisposition syndromealpha-thalassemia-myelodysplastic syndromeLi-Fraumeni syndromeGoldenhar syndromeHowel–Evans syndromeCarney complex-trismus-pseudocamptodactyly syndromeBRCA2 hereditary breast and ovarian cancer syndromeBRCA1 hereditary breast and ovarian cancer syndromeearly onset breast ovarian cancer syndromebreast-ovarian cancer, familial, susceptibility to, 3breast-ovarian cancer, familial, susceptibility to, 4Werner syndromeNijmegen breakage syndromeShwachman-Diamond syndromeWarsaw breakage syndromeFrasier syndromeSchinzel–Giedion syndromeSchöpf–Schulz–Passarge syndromeDenys-Drash syndromeWiskott-Aldrich syndromeLi-Fraumeni syndrome 1Li-Fraumeni syndrome 2desmoid disease, hereditaryMoeschler-Clarren SyndromeWiskott-Aldrich syndrome, autosomal dominant formpolyuric-polydipsic syndrome

+849

Where this came from

wikidata · CC0 1.0

Source repository Registry entry point

Also registered as vr.tr.syndrome

Drafted structure

Bundle to layer to finding to question, as the second pass will find it: 4 bundles · 8 layers · 8 findings · 16 questions.

Classification Which syndrome.

Codes identify syndromes.

Codes

ORPHA, OMIM, ICD.

Codes

Codes.

  1. Which codes identify this syndrome? provenance
  2. Has its name changed? provenance

Cause

Known or unknown.

Cause

Cause.

  1. What is known about its cause? provenance
  2. Is it inherited? boundary
Features Signs and symptoms.

Features vary.

Common features

Typical signs.

Features

Typical features.

  1. What are its typical features? definition
  2. How variable are they? measurement

Diagnosis

How it is diagnosed.

Diagnosis

Diagnostic approach.

  1. How is it diagnosed? definition
  2. Who should the person see? action
Care Management and support.

Care is coordinated by specialists.

Management

Guidelines.

Management

Care guidelines.

  1. What do care guidelines recommend? provenance
  2. Which specialist centres exist? provenance

Support

Patient groups.

Support

Support organisations.

  1. Which patient organisations support people with it? action
  2. How can families connect? action
Handling Language and privacy.

Respect and privacy matter.

Language

Respectful terms.

Language

Respectful description.

  1. Is the description respectful and person-first? boundary
  2. Is the name current? provenance

Privacy

Health data.

Privacy

Data rules.

  1. Is health information being shared lawfully? boundary
  2. Could it identify a person? boundary

What the second pass must settle

  • Should syndromes be instances with Orphanet and OMIM codes?
  • How should naming changes be tracked?
  • How should agents signpost rare disease support?
Draft as JSON