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Osteosclerotic metaphyseal dysplasia

disorder
SNOMED 1237513008CUI C3554665

Overview

Osteosclerotic metaphyseal dysplasia 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.

Central hypotonia
Always present (100%)HP:0001252
Hyporeflexia
Always present (100%)HP:0001265
Lead lines in metaphyses of bones
Always present (100%)HP:0100959
Poor weight gain
Always present (100%)HP:0001508
Psychomotor development deficiency
Always present (100%)HP:0001263
Sclerotic vertebral endplates
Always present (100%)HP:0004576
Elevated alkaline phosphatase
Occasional (5-29%)HP:0003155
Epilepsy
Occasional (5-29%)HP:0001250
Mental deficiency
Occasional (5-29%)HP:0001249
Clavicular sclerosis
HP:0100923
Increased bone mineral density
Excluded (<1%)HP:0011001
Metaphyseal dysplasia
HP:0100255

Related Conditions

Osteosclerosis(parent)
Recessive hereditary disorder (autosomal)(parent)
Skeletal dysplasia(parent)
Abnormality of metaphysis morphology(parent)

Quick Facts

SNOMED CT
1237513008
UMLS CUI
C3554665
Fully Specified Name
Osteosclerotic metaphyseal dysplasia (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
12
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.