← Back to Conditions
Short stature, developmental delay, congenital heart defect syndrome
disorderSNOMED 1237512003CUI C5700245
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cardiac anomaly
Very frequent (80-99%)HP:0001627
Cognitive delay
Very frequent (80-99%)HP:0001263
Increased circulating ribitol concentration
Very frequent (80-99%)HP:0025550
Short stature, proportionate
Very frequent (80-99%)HP:0003508
Atria septal defect
Frequent (30-79%)HP:0001631
Cataract, congenital
Frequent (30-79%)HP:0000519
Childhood attention deficit/hyperactivity disorder
Frequent (30-79%)HP:0007018
Increased level of ribose in urine
Frequent (30-79%)HP:0410072
Lens opacities
Frequent (30-79%)HP:0000518
Mental retardation, mild
Frequent (30-79%)HP:0001256
Mental-retardation
Frequent (30-79%)HP:0001249
Muscular hypotonia
Frequent (30-79%)HP:0001252
Nonverbal
Frequent (30-79%)HP:0001344
OCD
Frequent (30-79%)HP:0000722
Speech delay
Frequent (30-79%)HP:0000750
Uveitis
Frequent (30-79%)HP:0000554
VSD
Frequent (30-79%)HP:0001629
Anomalous coronary artery course
Occasional (5-29%)HP:0011686
Autoagression
Occasional (5-29%)HP:0100716
Conjunctivitis, recurrent
Occasional (5-29%)HP:0000509
Cystic kidney disease
Occasional (5-29%)HP:0000107
Deafness
Occasional (5-29%)HP:0000365
Dysseborrheic dermatitis
Occasional (5-29%)HP:0001051
Enlarged liver
Occasional (5-29%)HP:0002240
PDA
Occasional (5-29%)HP:0001643
PFO
Occasional (5-29%)HP:0001655
Previous menstrual periods stop
Occasional (5-29%)HP:0000869
Squint
Occasional (5-29%)HP:0000486
Stimming
Occasional (5-29%)HP:0000733
Type I diabetes mellitus
Occasional (5-29%)HP:0100651
Related Conditions
Congenital heart disease(parent)
Small stature(parent)
Cardiovascular system hereditary disorder(parent)
Developmental hereditary disorder(parent)
Congenital malformation syndrome(parent)
Cardiac complication(parent)
Pentose disorder(parent)
Recessive hereditary disorder (autosomal)(parent)
Inborn error of metabolism(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 1237512003
- UMLS CUI
- C5700245
- Fully Specified Name
- Short stature, developmental delay, congenital heart defect 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.