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Spondyloenchondrodysplasia

disorder
SNOMED 254079002CUI C0432222

Overview

Spondyloenchondrodysplasia 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.

Antinuclear antibodies
Very frequent (80-99%)HP:0003493
Flattened vertebral bodies
Very frequent (80-99%)HP:0000926
Metaphyseal dysplasia
Very frequent (80-99%)HP:0100255
Anti-dsDNA antibody positivity
Frequent (30-79%)HP:0020151
Autoimmunity
Frequent (30-79%)HP:0002960
Brain imaging abnormality
Frequent (30-79%)HP:0410263
CKD
Frequent (30-79%)HP:0012622
Decreased body height
Frequent (30-79%)HP:0004322
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Abnormal deposits of calcium in the brain
Occasional (5-29%)HP:0002514
Abnormality of lateral ventricle
Occasional (5-29%)HP:0030047
Abnormality of the nervous system
Occasional (5-29%)HP:0000707
Abnormality of the periventricular white matter
Occasional (5-29%)HP:0002518
Arthritis
Occasional (5-29%)HP:0001369
Autoimmune haemolytic anemia
Occasional (5-29%)HP:0001890
Bilateral crossbite
Occasional (5-29%)HP:0000689
Bowed lower limbs
Occasional (5-29%)HP:0002979
Choreiform movements
Occasional (5-29%)HP:0002072
Delayed eruption of teeth
Occasional (5-29%)HP:0000684
Dilated cerebral ventricle
Occasional (5-29%)HP:0002119
Distal phalangeal hypoplasia
Occasional (5-29%)HP:0009882
Dull intelligence
Occasional (5-29%)HP:0001249
Enchondroma
Occasional (5-29%)HP:0030038
Granuloma
Occasional (5-29%)HP:0032252
Headache
Occasional (5-29%)HP:0002315
Hepatitis
Occasional (5-29%)HP:0012115
High blood pressure
Occasional (5-29%)HP:0000822
High urine occult blood
Occasional (5-29%)HP:0000790
Idiopathic thrombocytopenic purpura
Occasional (5-29%)HP:0001973
Inflammation of blood vessel
Occasional (5-29%)HP:0002633

Related Conditions

Roifman-Melamed syndrome(child)
Metaphyseal chondrodysplasia(parent)
Type I interferonopathy(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of immune system(parent)
Hereditary disorder of musculoskeletal system(parent)
Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT
254079002
UMLS CUI
C0432222
Fully Specified Name
Spondyloenchondrodysplasia (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
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.