Deletion 22

disorder

SNOMED 787411009CUI C0795878

Overview

Deletion 22 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.

Abnormality of the region around the eye

Frequent (30-79%)HP:0000606

Cancer of connective tissue

Frequent (30-79%)HP:0100242

Decreased volume of lip vermillion

Frequent (30-79%)HP:0000233

Flat facial shape

Frequent (30-79%)HP:0012368

High arched palate

Frequent (30-79%)HP:0000218

High forehead

Frequent (30-79%)HP:0000348

Increased length of philtrum

Frequent (30-79%)HP:0000343

Increased nasal width

Frequent (30-79%)HP:0000445

Narrow eyelid opening

Frequent (30-79%)HP:0045025

Noncancerous growth of membranes covering brain

Frequent (30-79%)HP:0002858

Palpebronasal fold

Frequent (30-79%)HP:0000286

Permanent curving of the pinkie finger

Frequent (30-79%)HP:0004209

Poor school performance

Frequent (30-79%)HP:0001249

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Prominent back of the head

Frequent (30-79%)HP:0000269

Retrognathia

Frequent (30-79%)HP:0000278

Schwannoma

Frequent (30-79%)HP:0100008

Short neck

Frequent (30-79%)HP:0000470

Single flexion crease

Frequent (30-79%)HP:0000954

Slack jawed appearance

Frequent (30-79%)HP:0000194

Unibrow

Frequent (30-79%)HP:0000664

Contractures of the large joints

Occasional (5-29%)HP:0005781

Decreased size of cranium

Occasional (5-29%)HP:0000252

Deep nasolabial crease

Occasional (5-29%)HP:0005272

Digital clubbing

Occasional (5-29%)HP:0001217

Gonadal neoplasm

Occasional (5-29%)HP:0010785

Hepatosplenomegaly

Occasional (5-29%)HP:0001433

Hypochromic, microcytic anaemia

Occasional (5-29%)HP:0004840

Hypotrichosis

Occasional (5-29%)HP:0008070

Joint swelling

Occasional (5-29%)HP:0001386

Related Conditions

Anomaly of chromosome pair 22(parent)

Multiple system malformation syndrome(parent)

Complete monosomy of autosome(parent)

Quick Facts

SNOMED CT: 787411009
UMLS CUI: C0795878
Fully Specified Name: Monosomy 22 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.