Overview
Ubiquitin specific peptidase 18 deficiency 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.
Acute respiratory distress syndrome
Always present (100%)HP:0033677
Dilatation of lateral cerebral ventricles
Always present (100%)HP:0006956
Foetal distress
Always present (100%)HP:0025116
Respiratory insufficiency
Always present (100%)HP:0002093
Hemorrhagic stroke
Very frequent (80-99%)HP:0001342
Seizures
Very frequent (80-99%)HP:0001250
PDA
Frequent (30-79%)HP:0001643
Petechiae
Frequent (30-79%)HP:0000967
Thrombocytopenia
Frequent (30-79%)HP:0001873
Abnormal deposits of calcium in the brain
Occasional (5-29%)HP:0002514
Abnormal renal corticomedullary differentiation
Occasional (5-29%)HP:0005932
Ascites
Occasional (5-29%)HP:0001541
Bradycardia
Occasional (5-29%)HP:0001662
Decreased size of cranium
Occasional (5-29%)HP:0000252
Dilated cerebral ventricle
Occasional (5-29%)HP:0002119
Elevated liver enzymes
Occasional (5-29%)HP:0002910
Enlarged liver
Occasional (5-29%)HP:0002240
Fluid around lungs
Occasional (5-29%)HP:0002202
Lacticacidemia
Occasional (5-29%)HP:0003128
Patent ostium secundum
Occasional (5-29%)HP:0001684
Slender ribs
Occasional (5-29%)HP:0000883
Small cerebellum
Occasional (5-29%)HP:0001321
Generalised decreased muscle tone
HP:0001290
Gray matter heterotopias
HP:0002282
More grooves in brain
HP:0002126
Torpor
HP:0001254
Quick Facts
- SNOMED CT
- 1251449006
- UMLS CUI
- C4479376
- Fully Specified Name
- Ubiquitin specific peptidase 18 deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 26
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.