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Polysyndactyly and cardiac malformation syndrome
disorderSNOMED 724066002CUI C1849719
Overview
Polysyndactyly and cardiac malformation 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.
Cardiac anomaly
Very frequent (80-99%)HP:0001627
Polydactyly
Very frequent (80-99%)HP:0010442
Syndactyly
Very frequent (80-99%)HP:0001159
Atria septal defect
Frequent (30-79%)HP:0001631
Bulbous nose
Frequent (30-79%)HP:0000414
Hydramnios
Frequent (30-79%)HP:0001561
Hypoplastic mandible
Frequent (30-79%)HP:0000347
Increased distance between eyes
Frequent (30-79%)HP:0000316
Low-set ears
Frequent (30-79%)HP:0000369
Malformation of the hepatic ductal plate
Frequent (30-79%)HP:0006563
Nostrils anteverted
Frequent (30-79%)HP:0000463
VSD
Frequent (30-79%)HP:0001629
Cataract
Occasional (5-29%)HP:0000518
Cortical cysts
Occasional (5-29%)HP:0000803
Decreased size of eyeball
Occasional (5-29%)HP:0000568
Palpebronasal fold
Occasional (5-29%)HP:0000286
Small nail
Occasional (5-29%)HP:0001792
Tetrology of fallot
Occasional (5-29%)HP:0001636
Vitreous hemorrhage
Occasional (5-29%)HP:0007902
Distortion of face
HP:0001999
Liver cysts
HP:0001407
Partial/complete duplication of the phalanges of the hallux
HP:0010066
Preaxial hand polydactyly
HP:0001177
Renal cyst
HP:0000107
Quick Facts
- SNOMED CT
- 724066002
- UMLS CUI
- C1849719
- Fully Specified Name
- Polysyndactyly and cardiac malformation syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
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.