Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB GOF mutation

disorder

SNOMED 1366698006CUI C6009962

Overview

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

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary disorder of tooth(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of immune system(parent)

Hereditary disorder of the integument(parent)

Hypohidrotic ectodermal dysplasia with immune deficiency(parent)

Quick Facts

SNOMED CT: 1366698006
UMLS CUI: C6009962
Fully Specified Name: Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder)
Specialists: 0
Diagnostic Biomarkers: 0

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.