Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome

disorder

SNOMED 722207000CUI C2675184

Overview

Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis 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.

Ineffective erythropoiesis

Always present (100%)HP:0010972

Undergrowth

Always present (100%)HP:0001508

Bronchial asthma

Very frequent (80-99%)HP:0002099

Pancreatic insufficiency

Very frequent (80-99%)HP:0001738

Calvarial hyperostosis

Frequent (30-79%)HP:0004490

Enlarged liver

Frequent (30-79%)HP:0002240

Fat in feces

Frequent (30-79%)HP:0002570

Large spleen

Frequent (30-79%)HP:0001744

Osteopenia

Frequent (30-79%)HP:0000938

Retarded ossification

Frequent (30-79%)HP:0002750

Rotting teeth

Frequent (30-79%)HP:0000670

Skin rash

Frequent (30-79%)HP:0000988

Allergic rhinitis

Occasional (5-29%)HP:0003193

Yellowing of the skin

Occasional (5-29%)HP:0000952

Malnutrition

HP:0004395

Psychomotor development deficiency

HP:0001263

Related Conditions

Exocrine pancreatic insufficiency(parent)

Metabolic bone disease(parent)

Congenital dyserythropoietic anemia(parent)

Cytochrome-c oxidase deficiency(parent)

Dysostosis of bone of skull(parent)

Digestive system hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of endocrine system(parent)

Developmental hereditary disorder(parent)

Disorder of digestive system specific to fetus OR newborn(parent)

Quick Facts

SNOMED CT: 722207000
UMLS CUI: C2675184
Fully Specified Name: Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

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.