Syndromic recessive X-linked ichthyosis

disorder

SNOMED 717041008CUI C4274085

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.

Epidermal hyperkeratosis

Very frequent (80-99%)HP:0000962

Hypohidrosis

Very frequent (80-99%)HP:0000966

Ichthyosiform abnormality of the skin

Very frequent (80-99%)HP:0008064

Childhood attention deficit/hyperactivity disorder

Frequent (30-79%)HP:0007018

Cognitive delay

Frequent (30-79%)HP:0001263

Corneal opacity

Frequent (30-79%)HP:0007957

Difficulty finding words

Frequent (30-79%)HP:0002381

Dull intelligence

Frequent (30-79%)HP:0001249

Abnormality of the abdominal wall

Occasional (5-29%)HP:0004298

Abnormality of the stomach

Occasional (5-29%)HP:0002577

Acute blood cancer

Occasional (5-29%)HP:0002488

Autism

Occasional (5-29%)HP:0000717

Congenital anterior abdominal wall defect

Occasional (5-29%)HP:0010866

Cryptorchidism

Occasional (5-29%)HP:0000028

Decreased activity of gonads

Occasional (5-29%)HP:0000135

Decreased body height

Occasional (5-29%)HP:0004322

Fewer or absent grooves in brain

Occasional (5-29%)HP:0001339

Renal failure

Occasional (5-29%)HP:0000083

Seizures

Occasional (5-29%)HP:0001250

Testicular seminoma

Occasional (5-29%)HP:0100617

Unilateral renal agenesis

Occasional (5-29%)HP:0000122

Related Conditions

Sex-linked ichthyosis(parent)

Quick Facts

SNOMED CT: 717041008
UMLS CUI: C4274085
Fully Specified Name: Syndromic recessive X-linked ichthyosis (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 21

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.