Overview
Severe congenital neutropenia type 3 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.
Clumsiness
Always present (100%)HP:0002312
Mental deficiency
Always present (100%)HP:0001249
Neutropoenia
Always present (100%)HP:0001875
Prone to bacterial infection
Always present (100%)HP:0002718
Sensorineural deafness
Always present (100%)HP:0000407
Hearing loss, conductive
Frequent (30-79%)HP:0000405
Impaired vibratory sensation
Frequent (30-79%)HP:0002495
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Acute lymphocytic leukemia
Occasional (5-29%)HP:0006721
Myelodysplasia
Occasional (5-29%)HP:0002863
Seizures
Occasional (5-29%)HP:0001250
Quick Facts
- SNOMED CT
- 770942003
- UMLS CUI
- C5235141
- Fully Specified Name
- Kostmann syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 11
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.