SNOMED_CT

SNOMED CT Concept 719652007: 2p21 microdeletion syndrome

719652007 is a SNOMED CT concept used to represent 2p21 microdeletion syndrome 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 attributes14
Role groups6
Module900000000000207008
Parents6

Defining attributes

Associated morphologyPartial monosomy(morphologic abnormality)
OccurrenceCongenital(qualifier value)
Finding siteChromosome pair 2(cell structure)
Associated morphologyPartial monosomy(morphologic abnormality)
OccurrenceCongenital(qualifier value)
Finding siteShort arm of chromosome(cell structure)
Associated morphologyMorphologically abnormal structure(morphologic abnormality)
OccurrenceCongenital(qualifier value)
Finding siteFace structure(body structure)
Pathological processPathological developmental process(qualifier value)
Associated morphologyLithiasis(morphologic abnormality)
Finding siteKidney structure(body structure)
Finding siteSkeletal muscle structure(body structure)
InterpretsMuscle tone(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

Monosomy 2p21

Frequently asked questions

Code details

Code719652007
SystemSNOMED_CT
Display name2p21 microdeletion syndrome
Description2p21 microdeletion syndrome (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 719652007 | 2p21 microdeletion syndrome | HealthAssure