X-linked severe congenital neutropenia

disorder

SNOMED 718882006CUI C1845987

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Inverted CD4/CD8 ratio

Always present (100%)HP:0033222

Decreased total monocyte count

Very frequent (80-99%)HP:0012312

Neutropoenia

Very frequent (80-99%)HP:0001875

Susceptibility to pyogenic infection

Very frequent (80-99%)HP:0002718

Bone marrow arrest at the promyelocytic stage

HP:0033607

Eczema

Excluded (<1%)HP:0000964

Related Conditions

Congenital neutropenia(parent)

Hereditary neoplastic syndrome(parent)

X-linked recessive hereditary disease(parent)

Quick Facts

SNOMED CT: 718882006
UMLS CUI: C1845987
Fully Specified Name: X-linked severe congenital neutropenia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 6

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.