Overview
Congenital amegakaryocytic thrombocytopenia 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.
Abnormal Hb
Very frequent (80-99%)HP:0011902
Low platelet count
Very frequent (80-99%)HP:0001873
Abnormal vertebral bodies
Frequent (30-79%)HP:0003312
Coarse face
Frequent (30-79%)HP:0000280
Decreased body height
Frequent (30-79%)HP:0004322
Decreased haemoglobin
Frequent (30-79%)HP:0001903
Nevocellular nevi
Frequent (30-79%)HP:0000995
Scoliosis
Frequent (30-79%)HP:0002650
Short neck
Frequent (30-79%)HP:0000470
Heart septal defect
Occasional (5-29%)HP:0001671
Poorly ossified skull
Occasional (5-29%)HP:0004331
Quick Facts
- SNOMED CT
- 716336002
- UMLS CUI
- C1327915
- Fully Specified Name
- Congenital amegakaryocytic thrombocytopenia (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.