Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome

disorder

SNOMED 720345008CUI C1866426

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.

Congenital alopecia totalis

Very frequent (80-99%)HP:0005597

Immune deficiency

Very frequent (80-99%)HP:0002721

Longitudinal ridging

Very frequent (80-99%)HP:0001807

Decreased proportion of CD4-positive T cells

HP:0032218

Dystrophic nails

HP:0008404

Hair loss

HP:0001596

Nail pitting

HP:0001803

Reduced number of T cells

HP:0005403

Severe T-cell immunodeficiency

HP:0005352

Related Conditions

Congenital alopecia(parent)

Congenital anomaly of nail(parent)

Autosomal recessive severe combined immunodeficiency disease(parent)

Hereditary disorder of the integument(parent)

Genetic disorder of nail(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 720345008
UMLS CUI: C1866426
Fully Specified Name: Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 9

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.