Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

disorder

SNOMED 27025001CUI C0406702

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 hair morphology

Very frequent (80-99%)HP:0001595

Abnormal toenail morphology

Very frequent (80-99%)HP:0008388

Abnormality of the fingernails

Very frequent (80-99%)HP:0001231

Fine hair

Very frequent (80-99%)HP:0002213

Hypoplastic teeth

Very frequent (80-99%)HP:0000685

Premature exfoliation of primary teeth

Very frequent (80-99%)HP:0006323

Xerosis

Very frequent (80-99%)HP:0000958

Hair loss

Frequent (30-79%)HP:0001596

Hypohidrosis

Frequent (30-79%)HP:0000966

Misshapened teeth

Frequent (30-79%)HP:0006482

Related Conditions

Ectodermal dysplasia with hair-tooth-nail-sweating defect(parent)

Genetic disorder of nail(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of the integument(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of tooth(parent)

Quick Facts

SNOMED CT: 27025001
UMLS CUI: C0406702
Fully Specified Name: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 10

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.