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Severe congenital hypochromic anemia with ringed sideroblasts
disorderSNOMED 725463007CUI C4511137
Overview
Severe congenital hypochromic anemia with ringed sideroblasts 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.
Decreased haemoglobin
Very frequent (80-99%)HP:0001903
Decreased transferrin saturation
Very frequent (80-99%)HP:0012464
Hyperferritinemia
Very frequent (80-99%)HP:0003281
Reticulocytopenia
Very frequent (80-99%)HP:0001896
Abnormality of the hypothalamus-pituitary axis
Frequent (30-79%)HP:0000864
Anisopoikilocytosis
Frequent (30-79%)HP:0004823
Azoospermia
Frequent (30-79%)HP:0000027
Decreased activity of gonads
Frequent (30-79%)HP:0000135
Elevated hepatic iron concentration
Frequent (30-79%)HP:0012465
Elevated liver enzymes
Frequent (30-79%)HP:0002910
Increased circulating iron concentration
Frequent (30-79%)HP:0003452
Microcytosis
Frequent (30-79%)HP:0025066
Paleness
Frequent (30-79%)HP:0000980
Tiredness
Frequent (30-79%)HP:0012378
Cafe-au-lait spots
Occasional (5-29%)HP:0000957
Dysplastic erythropoesis
Occasional (5-29%)HP:0012134
Hepatosplenomegaly
Occasional (5-29%)HP:0001433
Hypoadrenalism
Occasional (5-29%)HP:0000846
Hypothyroidism
Occasional (5-29%)HP:0000821
Retarded growth
Occasional (5-29%)HP:0001510
Related Conditions
Quick Facts
- SNOMED CT
- 725463007
- UMLS CUI
- C4511137
- Fully Specified Name
- Severe congenital hypochromic anemia with ringed sideroblasts (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 20
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.