Deletion of long arm of chromosome 18

disorder

SNOMED 270889005CUI C0432443

Overview

Deletion of long arm of chromosome 18 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.

Decreased volume of upper lip

Always present (100%)HP:0000219

Abnormal myelination

Frequent (30-79%)HP:0012447

Abnormal palmar dermatoglyphics

Frequent (30-79%)HP:0001018

Abnormal retinal morphology

Frequent (30-79%)HP:0000479

Absent auditory canals

Frequent (30-79%)HP:0000413

Arachnodactyly

Frequent (30-79%)HP:0001166

Bilateral conductive hearing loss

Frequent (30-79%)HP:0008513

Concave bridge of nose

Frequent (30-79%)HP:0005280

Cryptorchidism

Frequent (30-79%)HP:0000028

Cryptorchidism, bilateral

Frequent (30-79%)HP:0008689

Decreased body height

Frequent (30-79%)HP:0004322

Delayed skeletal development

Frequent (30-79%)HP:0002750

Diffuse white matter abnormalities

Frequent (30-79%)HP:0007204

Downturned corners of mouth

Frequent (30-79%)HP:0002714

Dysmorphic facies

Frequent (30-79%)HP:0001999

Fallen arches

Frequent (30-79%)HP:0001763

Fetal foot inversion

Frequent (30-79%)HP:0001762

Hypoacusis

Frequent (30-79%)HP:0000365

Hyporeflexia

Frequent (30-79%)HP:0001265

Hypotonia, in neonatal onset

Frequent (30-79%)HP:0001319

Incoordination

Frequent (30-79%)HP:0002311

Intrauterine growth retardation, IUGR

Frequent (30-79%)HP:0001511

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Kyphoscoliosis

Frequent (30-79%)HP:0002751

Mandibular hyperplasia

Frequent (30-79%)HP:0000303

Mental retardation, mild

Frequent (30-79%)HP:0001256

Near sighted

Frequent (30-79%)HP:0000545

PDA

Frequent (30-79%)HP:0001643

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Poor growth

Frequent (30-79%)HP:0001510

Related Conditions

18q partial monosomy syndrome(child)

Deletion of part of chromosome 18(parent)

Quick Facts

SNOMED CT: 270889005
UMLS CUI: C0432443
Fully Specified Name: Deletion of long arm of chromosome 18 (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.