Hereditary hypotrichosis with recurrent skin vesicles syndrome

disorder

SNOMED 724350009CUI C2751292

Overview

Hereditary hypotrichosis with recurrent skin vesicles 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.

Epidermal hyperplasia

Always present (100%)HP:0025092

Hyperkeratosis follicularis

Always present (100%)HP:0007502

Hypotrichosis

Always present (100%)HP:0008070

Inflammation of oral commisures

Always present (100%)HP:0030318

Skin bullae

Always present (100%)HP:0008066

Skin vesicle

Always present (100%)HP:0200037

Sparse body hair

Always present (100%)HP:0002231

Sparse eyebrow

Always present (100%)HP:0045075

sparse to absent axillary hair

Always present (100%)HP:0002215

Thin eyelashes

Always present (100%)HP:0000653

Thinning scalp hair

Always present (100%)HP:0002209

White discoloration of nails

Always present (100%)HP:0001820

Dental anomalies

Excluded (<1%)HP:0000164

EKG abnormality

Excluded (<1%)HP:0003115

Related Conditions

Congenital hypotrichia(parent)

Recessive hereditary disorder (autosomal)(parent)

Skin lesion(parent)

Hereditary disorder of the integument(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 724350009
UMLS CUI: C2751292
Fully Specified Name: Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.