Distal 7q11.23 microdeletion syndrome

disorder

SNOMED 770905005CUI C4749584

Overview

Distal 7q11.23 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.

Epilepsy

Frequent (30-79%)HP:0001250

Poor school performance

Frequent (30-79%)HP:0001249

Specific learning disability

Frequent (30-79%)HP:0001328

Aggression

Occasional (5-29%)HP:0000718

Atria septal defect

Occasional (5-29%)HP:0001631

Autism

Occasional (5-29%)HP:0000717

Bipolar disorder

Occasional (5-29%)HP:0007302

Cavity within brain

Occasional (5-29%)HP:0002132

Chiari malformation

Occasional (5-29%)HP:0002308

Childhood attention deficit/hyperactivity disorder

Occasional (5-29%)HP:0007018

Decreased size of cranium

Occasional (5-29%)HP:0000252

PDA

Occasional (5-29%)HP:0001643

Related Conditions

Distal deletion of long arm of chromosome 7(parent)

Congenital malformation(parent)

Quick Facts

SNOMED CT: 770905005
UMLS CUI: C4749584
Fully Specified Name: Distal 7q11.23 microdeletion syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.