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Netherton's syndrome

disorder
SNOMED 312514006CUI C0265962

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.

Abnormal vaginal discharge
Always present (100%)HP:0034269
Abnormality of the intestine
Always present (100%)HP:0002242
Agenesis of eyebrows
Always present (100%)HP:0002223
Allergy to drugs
Always present (100%)HP:0410323
Anaphylaxis
Always present (100%)HP:0100845
Annular cutaneous lesion
Always present (100%)HP:0025528
Apnea
Always present (100%)HP:0002104
Blepharitis
Always present (100%)HP:0000498
BO
Always present (100%)HP:0500001
Brittle hair
Always present (100%)HP:0002299
Brittle scalp hair
Always present (100%)HP:0004779
Caesarean section
Always present (100%)HP:0011410
Capillary malformation
Always present (100%)HP:0025104
Central hypotonia
Always present (100%)HP:0001252
Chronic constipation
Always present (100%)HP:0012450
Congenital ichthyosiform erythroderma
Always present (100%)HP:0007431
Decreased serum complement C3 level
Always present (100%)HP:0005421
Decreased serum IgG
Always present (100%)HP:0004315
Dermatographic urticaria
Always present (100%)HP:0011971
Difficulty breathing
Always present (100%)HP:0002094
Dry hair
Always present (100%)HP:0011359
Epidermal hyperkeratosis
Always present (100%)HP:0000962
Erythema
Always present (100%)HP:0010783
Facial swelling
Always present (100%)HP:0000282
Feeding difficulties
Always present (100%)HP:0011968
Fish allergy
Always present (100%)HP:0025847
Flexural lichenification
Always present (100%)HP:0007453
Generalized scaling
Always present (100%)HP:0025809
Hepatitis
Always present (100%)HP:0012115
Humoral immunodeficiency
Always present (100%)HP:0005363

Related Conditions

Cutaneous syndrome with ichthyosis(parent)
Hyperimmunoglobulin E syndrome(parent)
Congenital immunodeficiency disease(parent)
Hereditary disorder of immune system(parent)
Autosomal recessive ichthyosis(parent)
Trichorrhexis invaginata(parent)
Genetic defect of hair shaft(parent)

Quick Facts

SNOMED CT
312514006
UMLS CUI
C0265962
Fully Specified Name
Netherton syndrome (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.