Parastremmatic dwarfism

disorder

SNOMED 722210007CUI C1868616

Overview

Parastremmatic dwarfism 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.

Bowed long bones

Always present (100%)HP:0006487

Flexion contractures

Always present (100%)HP:0001371

Genu valga

Always present (100%)HP:0002857

Hunched back

Always present (100%)HP:0002808

Scoliosis

Always present (100%)HP:0002650

Short neck

Always present (100%)HP:0000470

Short stature, severe

Always present (100%)HP:0003510

Mental deficiency

Excluded (<1%)HP:0001249

Related Conditions

Autosomal dominant hereditary disorder(parent)

Metatropic dysplasia group(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 722210007
UMLS CUI: C1868616
Fully Specified Name: Parastremmatic dwarfism (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 8

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.