Rhizomelic chondrodysplasia punctata type 3

disorder

SNOMED 1003858007CUI C1838612

Overview

Rhizomelic chondrodysplasia punctata type 3 is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts

Always present (100%)HP:6000427

Dwarfism, short-limbed

HP:0008873

Humeral hypoplasia

HP:0005792

Poor weight gain

HP:0001508

Rhizomelic limb shortening

HP:0008905

Short femur

HP:0003097

Stippling of the epiphyses

HP:0010655

Related Conditions

Rhizomelic chondrodysplasia punctata syndrome(parent)

Quick Facts

SNOMED CT: 1003858007
UMLS CUI: C1838612
Fully Specified Name: Rhizomelic chondrodysplasia punctata type 3 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 7

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.