Sex-linked ichthyosis

disorder

SNOMED 72523005CUI C0079588

Overview

Sex-linked ichthyosis 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.

Ichthyosiform abnormality of the skin

Always present (100%)HP:0008064

Decreased sweating

Frequent (30-79%)HP:0000966

Cryptorchidism

Occasional (5-29%)HP:0000028

Keratoderma

Occasional (5-29%)HP:0000982

Mental deficiency

Occasional (5-29%)HP:0001249

Palmar hyperlinearity

Occasional (5-29%)HP:0033252

Testicular neoplasm

Very rare (1-4%)HP:0010788

Congenital ichthyosiform erythroderma

HP:0007431

Corneal stromal opacity

Excluded (<1%)HP:0007759

Related Conditions

Syndromic recessive X-linked ichthyosis(child)

Congenital ichthyosis of skin(parent)

Inborn error of metabolism(parent)

Deficiency of steryl-sulfatase(parent)

X-linked recessive hereditary disease(parent)

Quick Facts

SNOMED CT: 72523005
UMLS CUI: C0079588
Fully Specified Name: X-linked ichthyosis with steryl-sulfatase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 9

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.