Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome

disorder

SNOMED 783254003CUI C5190890

Overview

Hereditary persistence of fetal hemoglobin with sickle cell disease 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.

Persistence of haemoglobin F

Always present (100%)HP:0011904

HbS haemoglobin

Frequent (30-79%)HP:0045047

Absent spleen

Occasional (5-29%)HP:0001746

Arthralgias

Occasional (5-29%)HP:0002829

Hypochromic, microcytic anaemia

Occasional (5-29%)HP:0004840

Increased sickling of erythrocytes

Occasional (5-29%)HP:0008346

Large spleen

Occasional (5-29%)HP:0001744

Lung infiltrates

Occasional (5-29%)HP:0002113

Noninflammatory retina disease

Occasional (5-29%)HP:0000488

Reticulocytosis

Occasional (5-29%)HP:0001923

Spleen infarct

Occasional (5-29%)HP:0034336

Unusual course of infection

Occasional (5-29%)HP:0032169

Upset stomach

Occasional (5-29%)HP:0002027

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Hb F disease(parent)

Sickling disorder due to hemoglobin S(parent)

Quick Facts

SNOMED CT: 783254003
UMLS CUI: C5190890
Fully Specified Name: Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.