SNOMED_CT

SNOMED CT Concept 782743001: Huntington disease-like syndrome due to C9ORF72 expansions

782743001 is a SNOMED CT concept used to represent Huntington disease-like syndrome due to C9ORF72 expansions in structured clinical data. You may see this concept in clinical documentation systems, problem lists, terminology services, interoperability records, or semantic mapping workflows. SNOMED CT is a clinical terminology used to capture healthcare meaning in a standardized, interoperable form. This concept is typed as a disorder in the terminology hierarchy.

Reviewed by HealthAssure Clinical TeamUpdated 26 May 2026

What is this code?

SNOMED CT is a clinical terminology used to capture healthcare meaning in a standardized, interoperable form. This concept is typed as a disorder in the terminology hierarchy.

When is it used?

  • Used to represent a standardized clinical concept in health records, terminology services, and semantic mappings.
  • Often linked to diagnoses, findings, procedures, body structures, organisms, substances, or observable entities depending on the concept type.
  • Semantic tag: disorder

What it does not mean

  • A terminology concept label alone does not replace clinical interpretation, diagnosis context, or treatment advice.

Key facts

Semantic tagDisorder
Definition statusPrimitive
Definition patternSubclass
OWL axioms1
Defining attributes4
Role groups2
Module900000000000207008
Parents4

Defining attributes

Associated morphologyDegenerative abnormality(morphologic abnormality)
Finding siteStructure of basal nucleus(body structure)
Has interpretationAbnormal(qualifier value)
InterpretsMovement observable(observable entity)

Where you may see this code

You may see this concept in clinical documentation systems, problem lists, terminology services, interoperability records, or semantic mapping workflows.

Common synonyms

Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansionsC9ORF72-related Huntington disease phenocopy

Frequently asked questions

Code details

Code782743001
SystemSNOMED_CT
Display nameHuntington disease-like syndrome due to C9ORF72 expansions
DescriptionHuntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)

Flags

BillableNo
Valid clinical useNo

Source

SourceSNOMED CT
Version20260501T120000Z
Releasesnapshot

About this content

This page is prepared by HealthAssure's clinical team using official coding standards from SNOMED CT. AI tools assist with drafting explanations, which are then reviewed and verified by healthcare professionals for accuracy. This content is for informational purposes and does not replace professional medical advice. Meet our team.

SNOMED CT 782743001 | Huntington disease-like syndrome due to C9ORF72 expansions | HealthAssure