Megaloblastic anaemia due to dihydrofolate reductase deficiency

disorder

SNOMED 866092006CUI C3151205

Overview

Megaloblastic anaemia due to dihydrofolate reductase deficiency 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 CSF 5-methyltetrahydrofolate concentration

Always present (100%)HP:0012446

Increased MCV

Always present (100%)HP:0005518

Absence seizure with eyelid myoclonia

Frequent (30-79%)HP:0011149

Increased lactate dehydrogenase level

Frequent (30-79%)HP:0025435

Megaloblastic anemia

Frequent (30-79%)HP:0001889

Abnormal serum folate

Excluded (<1%)HP:0040087

Ataxia

HP:0001251

Central hypotonia

HP:0001252

Degeneration of cerebrum

HP:0002059

Delay in head control

HP:0002421

Delayed myelination

HP:0012448

Enlarged liver

HP:0002240

Eyelid myoclonus

HP:0025097

Feeding difficulties

HP:0011968

Generalised decreased muscle tone

HP:0001290

Generalized non-motor (absence) seizure

HP:0002121

Mental and motor retardation

HP:0001263

Paleness

HP:0000980

Pancytopenia

HP:0001876

Postnatal microcephaly

HP:0005484

Small cerebellum

HP:0001321

Thrombocytopenia

HP:0001873

Yellowing of the skin

HP:0000952

Related Conditions

Megaloblastic anemia(parent)

Anemia due to enzyme disorder(parent)

Quick Facts

SNOMED CT: 866092006
UMLS CUI: C3151205
Fully Specified Name: Megaloblastic anemia due to dihydrofolate reductase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

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.