SNOMED_CT

SNOMED CT Concept 398958000: Chondrodysplasia punctata, X-linked dominant type

398958000 is a SNOMED CT concept used to represent Chondrodysplasia punctata, X-linked dominant type 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 attributes8
Role groups2
Module900000000000207008
Parents8

Defining attributes

Associated morphologyDysplasia(morphologic abnormality)
OccurrenceCongenital(qualifier value)
Finding siteBone structure(body structure)
Pathological processPathological developmental process(qualifier value)
Associated morphologyMorphologically abnormal structure(morphologic abnormality)
OccurrenceCongenital(qualifier value)
Finding siteSkin structure(body structure)
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

Conradi Hünermann Happle syndromeX-linked chondrodysplasia punctata type 2Chondrodystrophia calcificans congenitaHapple syndromeEBP gene related chondrodysplasia punctata, X-linked dominant typeCDPX2 - chondrodysplasia punctata X-linked type 2

Frequently asked questions

Code details

Code398958000
SystemSNOMED_CT
Display nameChondrodysplasia punctata, X-linked dominant type
DescriptionChondrodysplasia punctata, X-linked dominant type (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.