Johnson syndrome

disorder

SNOMED 719825000CUI C4304406

Overview

Johnson 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.

Increased size of skull

Very frequent (80-99%)HP:0000256

Large testis

Very frequent (80-99%)HP:0000053

Moderate mental retardation

Very frequent (80-99%)HP:0002342

Related Conditions

Developmental hereditary disorder(parent)

Congenital macrocephaly(parent)

X-linked recessive hereditary disease(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 719825000
UMLS CUI: C4304406
Fully Specified Name: X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 3

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.