Anhidrotic ectodermal dysplasia with immune deficiency due to NFKBIA gain of function mutation

disorder

SNOMED 1354646005CUI C5969873

Overview

Anhidrotic ectodermal dysplasia with immune deficiency due to NFKBIA gain of function mutation is a disorder.

Auto-generated from clinical reference data. 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: 1354646005
UMLS CUI: C5969873
Fully Specified Name: Anhidrotic ectodermal dysplasia with immune deficiency due to nuclear factor kappa-B inhibitor alpha, 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.