Beta thalassemia X-linked thrombocytopenia syndrome

disorder

SNOMED 718196002CUI C1839161

Overview

Beta thalassemia X-linked thrombocytopenia syndrome 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.

Bruising susceptibility

Always present (100%)HP:0000978

Increased RBC distribution width

Always present (100%)HP:0031965

Large platelets

Always present (100%)HP:0011877

Reduced platelet alpha granules

Always present (100%)HP:0033536

Abnormal Hb

Very frequent (80-99%)HP:0011902

Abnormal platelet function

Very frequent (80-99%)HP:0011869

Bleeding tendency

Very frequent (80-99%)HP:0001892

Decreased haemoglobin

Very frequent (80-99%)HP:0001903

Large spleen

Very frequent (80-99%)HP:0001744

Thrombocytopenia

Very frequent (80-99%)HP:0001873

Hemolytic anaemia

Frequent (30-79%)HP:0001878

Increased bleeding time

HP:0003010

Nasal hemorrhage

HP:0000421

Petechiae

HP:0000967

Reticulocytosis

HP:0001923

Related Conditions

Beta thalassemia(parent)

X-linked recessive hereditary disease(parent)

Quick Facts

SNOMED CT: 718196002
UMLS CUI: C1839161
Fully Specified Name: Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.