Distal 22q11.2 microdeletion syndrome

disorder

SNOMED 734029004CUI C4518343

Overview

Distal 22q11.2 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.

Cognitive delay

Very frequent (80-99%)HP:0001263

Decreased body height

Very frequent (80-99%)HP:0004322

Flat philtrum

Very frequent (80-99%)HP:0000319

Language impairment

Very frequent (80-99%)HP:0002463

Mental deficiency

Very frequent (80-99%)HP:0001249

Premature birth

Very frequent (80-99%)HP:0001622

Thick, flared eyebrows

Very frequent (80-99%)HP:0002553

Abnormal earlobe morphology

Frequent (30-79%)HP:0000363

Abnormal tissue mass

Frequent (30-79%)HP:0002664

Absent toenails (anonychia)

Frequent (30-79%)HP:0001802

Anonychia of fingernails

Frequent (30-79%)HP:0001817

Decreased size of cranium

Frequent (30-79%)HP:0000252

Decreased volume of upper lip

Frequent (30-79%)HP:0000219

Dropped arches

Frequent (30-79%)HP:0001763

Enophthalmos

Frequent (30-79%)HP:0000490

Intrauterine growth retardation, IUGR

Frequent (30-79%)HP:0001511

Permanent curving of the pinkie finger

Frequent (30-79%)HP:0004209

Small nasal alae

Frequent (30-79%)HP:0000430

Small pointed chin

Frequent (30-79%)HP:0000307

Truncus arteriosus

Frequent (30-79%)HP:0001660

Anal incontinence

Occasional (5-29%)HP:0002607

Aortic aneurysm

Occasional (5-29%)HP:0004942

Aortic valve regurgitation

Occasional (5-29%)HP:0001659

Arachnodactyly

Occasional (5-29%)HP:0001166

Atria septal defect

Occasional (5-29%)HP:0001631

Blepharophimosis

Occasional (5-29%)HP:0000581

Bowed long bones

Occasional (5-29%)HP:0006487

Branchial cleft fistula

Occasional (5-29%)HP:0009795

Childhood attention deficit/hyperactivity disorder

Occasional (5-29%)HP:0007018

Choanal atresia

Occasional (5-29%)HP:0000453

Related Conditions

22q partial monosomy(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 734029004
UMLS CUI: C4518343
Fully Specified Name: Distal 22q11.2 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.