Dermatoleukodystrophy

disorder

SNOMED 733044009CUI C1857314

Overview

Dermatoleukodystrophy 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.

Abnormal shape of nervous system

Very frequent (80-99%)HP:0012639

Diffusely thickened skin

Very frequent (80-99%)HP:0001072

Epidermal hyperkeratosis

Very frequent (80-99%)HP:0000962

Mental deficiency

Very frequent (80-99%)HP:0001249

Increased reflexes

Frequent (30-79%)HP:0001347

Reduced tendon reflexes

Frequent (30-79%)HP:0001315

Disproportionately large hands

HP:0001176

Hyperplasia of nose

HP:0000448

Laboratory abnormality

HP:0001939

Large pinnae

HP:0000400

Leukodystrophy

HP:0002415

Long foot

HP:0001833

Premature skin wrinkling

HP:0100678

Progeroid facial appearance

HP:0005328

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Leucodystrophy(parent)

Congenital anomaly of skin(parent)

Hereditary disorder of the integument(parent)

Hereditary degenerative disease of central nervous system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 733044009
UMLS CUI: C1857314
Fully Specified Name: Dermatoleukodystrophy (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.