← Back to Conditions

Dysspondyloenchondromatosis

disorder
SNOMED 722434004CUI C4302548

Overview

Dysspondyloenchondromatosis 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.

Abnormal spinal segmentation
Very frequent (80-99%)HP:0003422
Decreased body height
Very frequent (80-99%)HP:0004322
Enlarged joints
Very frequent (80-99%)HP:0003037
Formation of new noncancerous bone on top of existing bone
Very frequent (80-99%)HP:0100777
Generalized joint laxity
Very frequent (80-99%)HP:0002761
Joint dislocation
Very frequent (80-99%)HP:0001373
Kyphoscoliosis
Very frequent (80-99%)HP:0002751
Left and right leg differ in length or width
Very frequent (80-99%)HP:0100559
Multiple enchondromatosis
Very frequent (80-99%)HP:0005701
Pretibial blistering
Very frequent (80-99%)HP:0012221
Scoliosis
Very frequent (80-99%)HP:0002650
Skin erosion
Very frequent (80-99%)HP:0200041
Spondylometaphyseal dysplasia
Very frequent (80-99%)HP:0002657
Abnormal fibula morphology
Frequent (30-79%)HP:0002991
Abnormality of ulnar metaphysis
Frequent (30-79%)HP:0004039
Anisospondyly
Frequent (30-79%)HP:0002879
Flattened vertebral bodies
Frequent (30-79%)HP:0000926
Genu valga
Frequent (30-79%)HP:0002857
Metaphyseal enchondromatosis
Frequent (30-79%)HP:0005868
Osteoarthritis
Frequent (30-79%)HP:0002758
Retarded ossification
Frequent (30-79%)HP:0002750
Abnormal deposits of calcium in the brain
Occasional (5-29%)HP:0002514
Mental-retardation
Occasional (5-29%)HP:0001249

Quick Facts

SNOMED CT
722434004
UMLS CUI
C4302548
Fully Specified Name
Dysspondyloenchondromatosis (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
23
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.