Autosomal dominant severe congenital neutropaenia

disorder

SNOMED 770947009CUI C4749612

Overview

Autosomal dominant severe congenital neutropaenia 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.

Neutropoenia

Always present (100%)HP:0001875

Recurrent bacterial infections

Very frequent (80-99%)HP:0002718

Recurrent viral infections

Very frequent (80-99%)HP:0004429

Absolute lymphocyte count decrease

Frequent (30-79%)HP:0001888

Buccal aphthous ulcers

Frequent (30-79%)HP:0011107

Diarrhea

Frequent (30-79%)HP:0002014

Increased total monocyte count

Frequent (30-79%)HP:0012311

Mouth ulcer

Frequent (30-79%)HP:0000155

Pharyngitis

Frequent (30-79%)HP:0025439

Pneumonia

Frequent (30-79%)HP:0002090

Pyorrhea

Frequent (30-79%)HP:0000704

Pyrexia

Frequent (30-79%)HP:0001945

Recurrent ear infections

Frequent (30-79%)HP:0410018

Recurrent infection of the GI tract

Frequent (30-79%)HP:0004798

Recurrent sinopulmonary infections

Frequent (30-79%)HP:0005425

Red and swollen gums

Frequent (30-79%)HP:0000230

Rhinitis

Frequent (30-79%)HP:0012384

Skin infections, recurrent

Frequent (30-79%)HP:0001581

Stomach pain

Frequent (30-79%)HP:0002027

Acute lymphocytic leukemia

Occasional (5-29%)HP:0006721

Acute myeloid leukaemia

Occasional (5-29%)HP:0004808

Antineutrophil antibody positivity

Occasional (5-29%)HP:0003453

Aplastic anemia

Occasional (5-29%)HP:0001915

Bacterial infection of skin

Occasional (5-29%)HP:0100658

Eosinophilia

Occasional (5-29%)HP:0001880

Hemangiomata

Occasional (5-29%)HP:0001028

Leukaemia

Occasional (5-29%)HP:0001909

Myelodysplasia

Occasional (5-29%)HP:0002863

Osteopenia

Occasional (5-29%)HP:0000938

Premature exfoliation of teeth

Occasional (5-29%)HP:0006480

Related Conditions

Autosomal dominant hereditary disorder(parent)

Congenital neutropenia(parent)

Hereditary neoplastic syndrome(parent)

Quick Facts

SNOMED CT: 770947009
UMLS CUI: C4749612
Fully Specified Name: Autosomal dominant severe congenital neutropenia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.