Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Elevated serum creatine phosphokinase
Always present (100%)HP:0003236
Increased lactate dehydrogenase level
Always present (100%)HP:0025435
Large nose
Always present (100%)HP:0000448
Stroke-like episode
Always present (100%)HP:0002401
Abnormal vocalization
Very frequent (80-99%)HP:0002167
Absent spleen
Very frequent (80-99%)HP:0001746
Blood platelet disease
Very frequent (80-99%)HP:0001872
Blood spots
Very frequent (80-99%)HP:0000979
Decreased haemoglobin
Very frequent (80-99%)HP:0001903
Enophthalmos
Very frequent (80-99%)HP:0000490
Haemorrhagic disorders
Very frequent (80-99%)HP:0001928
High forehead
Very frequent (80-99%)HP:0000348
Ichthyosiform abnormality of the skin
Very frequent (80-99%)HP:0008064
Low platelet count
Very frequent (80-99%)HP:0001873
Miosis
Very frequent (80-99%)HP:0000616
Muscular abnormality
Very frequent (80-99%)HP:0003011
Blood in urine
Frequent (30-79%)HP:0000790
Bruising susceptibility
Frequent (30-79%)HP:0000978
Decreased height of philtrum
Frequent (30-79%)HP:0000322
Frequent nosebleeds
Frequent (30-79%)HP:0000421
Hypoplastic spleen
Frequent (30-79%)HP:0006270
Migraine headache
Frequent (30-79%)HP:0002076
Subarachnoid hemorrhage
Occasional (5-29%)HP:0002138
Bleeding tendency
HP:0001892
Decreased body height
HP:0004322
Dyslexia
HP:0010522
Howell-Jolly bodies
HP:0032550
Increased muscle fatiguability
HP:0003750
Muscle pain
HP:0003326
Myopathy
HP:0003198
Quick Facts
- SNOMED CT
- 711407000
- UMLS CUI
- C1861451
- Fully Specified Name
- Thrombocytopathy, asplenia and miosis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.