Spondyloepiphyseal dysplasia tarda Kohn type

disorder

SNOMED 719202006CUI C4304888

Overview

Spondyloepiphyseal dysplasia tarda Kohn type 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.

Abnormality of the ankle

Frequent (30-79%)HP:0003028

Abnormality of the knee

Frequent (30-79%)HP:0002815

Bilateral coxa valga

Frequent (30-79%)HP:0010665

Decreased body height

Frequent (30-79%)HP:0004322

Flattened vertebral bodies

Frequent (30-79%)HP:0000926

Iliac abnormalities

Frequent (30-79%)HP:0002867

Multiple vertebral anomalies

Frequent (30-79%)HP:0003468

Restricted large joint movement

Frequent (30-79%)HP:0005193

Short-trunked dwarfism

Frequent (30-79%)HP:0003521

Mental retardation, mild

Occasional (5-29%)HP:0001256

Moderate mental retardation

Occasional (5-29%)HP:0002342

Related Conditions

Spondyloepiphyseal dysplasia tarda(parent)

Recessive hereditary disorder (autosomal)(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 719202006
UMLS CUI: C4304888
Fully Specified Name: Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

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.