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Chromosome Xp11.3 microdeletion syndrome

disorder
SNOMED 719808002CUI C0795873

Overview

Chromosome Xp11.3 microdeletion 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.

Iris hypopigmentation
Very frequent (80-99%)HP:0007730
Nonprogressive mental retardation
Very frequent (80-99%)HP:0001249

Related Conditions

Anomaly of chromosome X(parent)
Developmental hereditary disorder(parent)
X-linked retinitis pigmentosa(parent)
Congenital malformation(parent)
X-linked recessive hereditary disease(parent)
Genetic intellectual disability(parent)

Quick Facts

SNOMED CT
719808002
UMLS CUI
C0795873
Fully Specified Name
Chromosome Xp11.3 microdeletion syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
2
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.