Distal partial deletion of long arm of chromosome 11

disorder

SNOMED 715438008CUI C0795841

Overview

Distal partial deletion of long arm of chromosome 11 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 size of cranium

Always present (100%)HP:0000252

Feeding difficulties in infancy

Very frequent (80-99%)HP:0008872

Hypoplastic bone marrow

Very frequent (80-99%)HP:0005528

Low platelet count

Very frequent (80-99%)HP:0001873

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Poor school performance

Very frequent (80-99%)HP:0001249

Retarded growth

Very frequent (80-99%)HP:0001510

Abnormal vertebral bodies

Frequent (30-79%)HP:0003312

Absence of eyebrow

Frequent (30-79%)HP:0100840

Absent/underdeveloped ear lobes

Frequent (30-79%)HP:0009906

Broad bone of big toe

Frequent (30-79%)HP:0010059

Broad columella

Frequent (30-79%)HP:0010761

Childhood attention deficit/hyperactivity disorder

Frequent (30-79%)HP:0007018

Cryptorchidism

Frequent (30-79%)HP:0000028

Decreased body height

Frequent (30-79%)HP:0004322

Decreased corneal diameter

Frequent (30-79%)HP:0000482

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Dropped arches

Frequent (30-79%)HP:0001763

Dyschezia

Frequent (30-79%)HP:0002019

Eyelid ptosis

Frequent (30-79%)HP:0000508

Flat philtrum

Frequent (30-79%)HP:0000319

Frontal protuberance

Frequent (30-79%)HP:0002007

High forehead

Frequent (30-79%)HP:0000348

Increased distance between eyes

Frequent (30-79%)HP:0000316

Increased length of philtrum

Frequent (30-79%)HP:0000343

Large halluces

Frequent (30-79%)HP:0001847

Large head

Frequent (30-79%)HP:0000256

Missing ribs

Frequent (30-79%)HP:0000921

Nasal hypoplasia

Frequent (30-79%)HP:0003196

Related Conditions

Deletion of part of chromosome 11(parent)

Quick Facts

SNOMED CT: 715438008
UMLS CUI: C0795841
Fully Specified Name: Distal partial deletion of long arm of chromosome 11 (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.