X-linked congenital dyserythropoietic anemia with thrombocytopenia

disorder

SNOMED 722475006CUI C4302508

Overview

X-linked congenital dyserythropoietic anemia with 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 circulating LDH concentration

Very frequent (80-99%)HP:0045040

Abnormal megakaryocyte morphology

Very frequent (80-99%)HP:0012143

Abnormality of multiple cell lineages in the bone marrow

Very frequent (80-99%)HP:0012145

Anisocytosis

Very frequent (80-99%)HP:0011273

Cryptorchidism

Very frequent (80-99%)HP:0000028

Hypochromic anemia

Very frequent (80-99%)HP:0001931

Ineffective erythropoiesis

Very frequent (80-99%)HP:0010972

Macrothrombocytopenia

Very frequent (80-99%)HP:0040185

Poikilocytosis

Very frequent (80-99%)HP:0004447

Related Conditions

Congenital dyserythropoietic anemia(parent)

Hereditary thrombocytopenic disorder(parent)

Congenital thrombocytopenia(parent)

X-linked recessive hereditary disease(parent)

Quick Facts

SNOMED CT: 722475006
UMLS CUI: C4302508
Fully Specified Name: X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 9

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.