10q22.3q23.3 microdeletion syndrome

disorder

SNOMED 770401007CUI C4749270

Overview

10q22.3q23.3 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.

Big calvaria

Very frequent (80-99%)HP:0000256

Cognitive delay

Very frequent (80-99%)HP:0001263

Language impairment

Very frequent (80-99%)HP:0002463

Mental-retardation

Very frequent (80-99%)HP:0001249

Depressed nasal root/bridge

Frequent (30-79%)HP:0005280

Increased distance between eyes

Frequent (30-79%)HP:0000316

Low-set ears

Frequent (30-79%)HP:0000369

Arachnodactyly

Occasional (5-29%)HP:0001166

Autism

Occasional (5-29%)HP:0000717

Breast aplasia

Occasional (5-29%)HP:0100783

Chiari malformation

Occasional (5-29%)HP:0002308

Childhood attention deficit/hyperactivity disorder

Occasional (5-29%)HP:0007018

Curved middle phalanx of the 4th toe

Occasional (5-29%)HP:0100444

Decreased size of cranium

Occasional (5-29%)HP:0000252

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

Frontal protuberance

Occasional (5-29%)HP:0002007

Gastrointestinal polyps

Occasional (5-29%)HP:0200008

Hole in center of heart

Occasional (5-29%)HP:0006695

Ligamentous laxity

Occasional (5-29%)HP:0001382

Mongoloid slant

Occasional (5-29%)HP:0000582

Nostrils anteverted

Occasional (5-29%)HP:0000463

Ocular hypotelorism

Occasional (5-29%)HP:0000601

Palpebronasal fold

Occasional (5-29%)HP:0000286

PDA

Occasional (5-29%)HP:0001643

Poor weight gain

Occasional (5-29%)HP:0001508

Retromicrognathia

Occasional (5-29%)HP:0000308

Seizures

Occasional (5-29%)HP:0001250

Small cerebellum

Occasional (5-29%)HP:0001321

Talipes

Occasional (5-29%)HP:0001883

Tricuspid valve prolapse

Occasional (5-29%)HP:0001704

Related Conditions

10q partial monosomy(parent)

Quick Facts

SNOMED CT: 770401007
UMLS CUI: C4749270
Fully Specified Name: 10q22.3q23.3 microdeletion syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.