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Brooke-Spiegler syndrome

disorder
SNOMED 703531009CUI C1857941

Overview

Brooke-Spiegler syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

Cylindroma
Very frequent (80-99%)HP:0031024
Anomaly of scalp
Frequent (30-79%)HP:0001965
Anomaly of the face
Frequent (30-79%)HP:0000271
Growth of abnormal tissue on or under the skin
Frequent (30-79%)HP:0200036
Malformation of the neck
Frequent (30-79%)HP:0000464
Skin adnexal tumor
Frequent (30-79%)HP:0012842
Trichoepithelioma
Frequent (30-79%)HP:0025367
Basal cell carcinoma
Occasional (5-29%)HP:0002671
Bleeding tendency
Occasional (5-29%)HP:0001892
Eyelid nodules
Occasional (5-29%)HP:0010732
Multiple cutaneous malignancies
Occasional (5-29%)HP:0007606
Open skin sore
Occasional (5-29%)HP:0200042
Skin-colored papule
Occasional (5-29%)HP:0025512
Abnormality of the auditory canal
Very rare (1-4%)HP:0000372
Abnormality of the sublingual glands
Very rare (1-4%)HP:0010288
Abnormality of the submandibular glands
Very rare (1-4%)HP:0010287
Facial palsy
Very rare (1-4%)HP:0010628
Hearing impairment
Very rare (1-4%)HP:0000365
Poor vision
Very rare (1-4%)HP:0000505
Salivary gland neoplasia
Very rare (1-4%)HP:0100684
Abnormal tissue mass
HP:0002664
Milia
HP:0001056

Quick Facts

SNOMED CT
703531009
UMLS CUI
C1857941
Fully Specified Name
Brooke-Spiegler syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
22
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.