SNOMED_CT

SNOMED CT Concept 1304116002: KLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome

1304116002 is a SNOMED CT concept used to represent KLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap 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 attributes3
Role groups1
Module900000000000207008
Parents2

Defining attributes

Associated morphologyMorphologically abnormal structure(morphologic abnormality)
OccurrenceCongenital(qualifier value)
Pathological processPathological developmental process(qualifier value)

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

PERCHING syndromeKelch like family member 7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndromeKLHL7 (kelch like family member 7) related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome

Frequently asked questions

Code details

Code1304116002
SystemSNOMED_CT
Display nameKLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome
DescriptionKelch like family member 7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap 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 1304116002 | KLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome | HealthAssure