Spondyloepiphyseal dysplasia Kimberley type

disorder

SNOMED 719203001CUI C1842149

Overview

Spondyloepiphyseal dysplasia Kimberley 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.

Anomaly of the epiphyses

Very frequent (80-99%)HP:0005930

Flattened vertebral bodies

Very frequent (80-99%)HP:0000926

Micromelia

Very frequent (80-99%)HP:0002983

Osteoarthritis

Very frequent (80-99%)HP:0002758

Short stature, proportionate

Very frequent (80-99%)HP:0003508

Shorter than typical length between neck and abdomen

Very frequent (80-99%)HP:0010306

Spondyloepiphyseal dysplasia

Very frequent (80-99%)HP:0002655

Flat capital femoral epiphyses

HP:0003370

Genu valga

HP:0002857

Genua vara

HP:0002970

Retarded ossification

HP:0002750

Related Conditions

Autosomal dominant hereditary disorder(parent)

Spondyloepiphyseal dysplasia congenita(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 719203001
UMLS CUI: C1842149
Fully Specified Name: Spondyloepiphyseal dysplasia Kimberley 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.