CHOPS syndrome

disorder

SNOMED 764455002CUI C4085597

Overview

CHOPS 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.

Coarse face

Always present (100%)HP:0000280

Cryptorchidism

Always present (100%)HP:0000028

Abnormal skeletal morphology

Very frequent (80-99%)HP:0011842

Abnormality of the respiratory system

Very frequent (80-99%)HP:0002086

Decreased body height

Very frequent (80-99%)HP:0004322

Increased length of eyelashes

Very frequent (80-99%)HP:0000527

Nostrils anteverted

Very frequent (80-99%)HP:0000463

Obesity

Very frequent (80-99%)HP:0001513

Poor school performance

Very frequent (80-99%)HP:0001249

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Thick, flared eyebrows

Very frequent (80-99%)HP:0002553

Unibrow

Very frequent (80-99%)HP:0000664

Anomalous pulmonary venous return

Frequent (30-79%)HP:0010772

Aspiration pneumonia

Frequent (30-79%)HP:0011951

Brachydactyly

Frequent (30-79%)HP:0001156

Cardiac anomaly

Frequent (30-79%)HP:0001627

Chronic lung disease

Frequent (30-79%)HP:0006528

Constipation

Frequent (30-79%)HP:0002019

Deafness

Frequent (30-79%)HP:0000365

Decreased size of cranium

Frequent (30-79%)HP:0000252

Delayed gastric emptying

Frequent (30-79%)HP:0002578

Gastro-esophageal reflux

Frequent (30-79%)HP:0002020

Gastrostomy tube feeding in infancy

Frequent (30-79%)HP:0011471

Increased distance between eyes

Frequent (30-79%)HP:0000316

Large spleen

Frequent (30-79%)HP:0001744

Multiple vertebral anomalies

Frequent (30-79%)HP:0003468

Narrow, high-arched roof of mouth

Frequent (30-79%)HP:0002705

Optic atrophy

Frequent (30-79%)HP:0000648

PDA

Frequent (30-79%)HP:0001643

Rough hair texture

Frequent (30-79%)HP:0002208

Related Conditions

Multiple system malformation syndrome(parent)

Genetic intellectual disability(parent)

Genetic syndromic childhood obesity(parent)

Quick Facts

SNOMED CT: 764455002
UMLS CUI: C4085597
Fully Specified Name: Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia 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.