Cystic fibrosis with gastritis and megaloblastic anemia syndrome

disorder

SNOMED 720401009CUI C2931402

Overview

Cystic fibrosis with gastritis and megaloblastic anemia 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.

Abnormality of red blood cells

Very frequent (80-99%)HP:0001877

Broad flat nasal bridge

Very frequent (80-99%)HP:0000431

Diarrhea

Very frequent (80-99%)HP:0002014

Enophthalmos

Very frequent (80-99%)HP:0000490

Folate-unresponsive megaloblastic anemia

Very frequent (80-99%)HP:0004826

Frontal protuberance

Very frequent (80-99%)HP:0002007

Gastritis

Very frequent (80-99%)HP:0005263

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased intercanthal distance

Very frequent (80-99%)HP:0000506

Large pinnae

Very frequent (80-99%)HP:0000400

Megaloblastic anemia

Very frequent (80-99%)HP:0001889

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

respiratory infections, recurrent

Very frequent (80-99%)HP:0002205

Decreased projection of lower jaw

Frequent (30-79%)HP:0000347

Glanular hypospadias

Frequent (30-79%)HP:0000807

Hypospadias

Frequent (30-79%)HP:0000047

Nephrosis

Frequent (30-79%)HP:0000100

Shawl scrotum

Frequent (30-79%)HP:0000049

Related Conditions

Megaloblastic anemia due to folate deficiency(parent)

Cystic fibrosis(parent)

Digestive system hereditary disorder(parent)

Hereditary red blood cell disorder(parent)

Helicobacter pylori-associated gastritis(parent)

Developmental hereditary disorder(parent)

Gastrointestinal complication(parent)

Respiratory complication(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 720401009
UMLS CUI: C2931402
Fully Specified Name: Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 18

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.