SNOMED_CT

SNOMED CT Concept 1295488006: Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome

1295488006 is a SNOMED CT concept used to represent Pyrroline-5-carboxylate reductase 1 related de Barsy 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 attributes22
Role groups9
Module900000000000207008
Parents2

Defining attributes

Associated morphologyOpacity(morphologic abnormality)
OccurrenceCongenital(qualifier value)
Finding siteCorneal structure(body structure)
Pathological processPathological developmental process(qualifier value)
Associated morphologyMorphologically abnormal structure(morphologic abnormality)
OccurrenceCongenital(qualifier value)
Finding siteFace structure(body structure)
Pathological processPathological developmental process(qualifier value)
OccurrenceCongenital(qualifier value)
Finding siteConnective tissue structure(body structure)
Pathological processPathological developmental process(qualifier value)
OccurrenceCongenital(qualifier value)
Finding siteSkin structure(body structure)
Pathological processPathological developmental process(qualifier value)
Has interpretationImpaired(qualifier value)
InterpretsIntellectual ability(observable entity)
Has interpretationImpaired(qualifier value)
InterpretsAdaptation behaviour(observable entity)
Has interpretationAbnormal(qualifier value)
InterpretsReflex(observable entity)
Finding siteJoint structure(body structure)
Due toDeficiency of pyrroline-5-carboxylate reductase(disorder)

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

Disorder due to pyrroline-5-carboxylate reductase 1 deficiencyPYCR1-related de Barsy syndromeAutosomal recessive cutis laxa type IIIb

Frequently asked questions

Code details

Code1295488006
SystemSNOMED_CT
Display namePyrroline-5-carboxylate reductase 1 related de Barsy syndrome
DescriptionPyrroline-5-carboxylate reductase 1 related de Barsy 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 1295488006 | Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome | HealthAssure