← Back to Conditions
Microcephalic primordial dwarfism of Toriello type
disorderSNOMED 715482004CUI C1855089
Overview
Microcephalic primordial dwarfism of Toriello 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
Brachydactyly
Very frequent (80-99%)HP:0001156
Decreased circulating total IgM
Very frequent (80-99%)HP:0002850
Decreased serum IgG
Very frequent (80-99%)HP:0004315
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Delayed skeletal development
Very frequent (80-99%)HP:0002750
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Enamel dysplasia
Very frequent (80-99%)HP:0006297
Lens opacities
Very frequent (80-99%)HP:0000518
Mental deficiency
Very frequent (80-99%)HP:0001249
respiratory infections, recurrent
Very frequent (80-99%)HP:0002205
Short stature, severe
Very frequent (80-99%)HP:0003510
Small for gestational age infant
Very frequent (80-99%)HP:0001511
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Downturned corners of mouth
Frequent (30-79%)HP:0002714
Neutropoenia
Frequent (30-79%)HP:0001875
Peripheral hypotonia
Frequent (30-79%)HP:0001252
Rib anomalies
Frequent (30-79%)HP:0000772
Quick Facts
- SNOMED CT
- 715482004
- UMLS CUI
- C1855089
- Fully Specified Name
- Microcephalic primordial dwarfism of Toriello type (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 18
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.