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Triploidy syndrome

disorder
SNOMED 66651005CUI C0333693

Overview

Triploidy 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.

Abnormal cranial suture/fontanelle morphology
Very frequent (80-99%)HP:0000235
Abnormality of chromosome segregation
Very frequent (80-99%)HP:0002916
Cryptorchidism
Very frequent (80-99%)HP:0000028
Decreased mineralization of skull
Very frequent (80-99%)HP:0004331
Hypoplasia of penis
Very frequent (80-99%)HP:0008736
Hypospadias
Very frequent (80-99%)HP:0000047
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Large mouth
Very frequent (80-99%)HP:0000154
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Small for gestational age infant
Very frequent (80-99%)HP:0001511
Aplasia/Hypoplasia affecting the eye
Frequent (30-79%)HP:0008056
Cataract
Frequent (30-79%)HP:0000518
Cleft of palate
Frequent (30-79%)HP:0000175
Enlarged liver
Frequent (30-79%)HP:0002240
Hypoplastic mandible
Frequent (30-79%)HP:0000347
Increased amniotic fluid index
Frequent (30-79%)HP:0001561
Iris coloboma
Frequent (30-79%)HP:0000612
Lingual hyperplasia
Frequent (30-79%)HP:0000158
Low chest circumference
Frequent (30-79%)HP:0000774
Non-midline cleft of the upper lip
Frequent (30-79%)HP:0100335
Omphalocoele
Frequent (30-79%)HP:0001539
Partial syndactyly
Frequent (30-79%)HP:0006101
Abnormality of the gallbladder
Occasional (5-29%)HP:0005264
Abnormality of the pancreas
Occasional (5-29%)HP:0001732
Ambiguous external genitalia
Occasional (5-29%)HP:0000062
Big calvaria
Occasional (5-29%)HP:0000256
Heart septal defect
Occasional (5-29%)HP:0001671
Hypoplastic or absent corpus callosum
Occasional (5-29%)HP:0007370
Intestinal malrotation
Occasional (5-29%)HP:0002566
Meningocele
Occasional (5-29%)HP:0002435

Related Conditions

Quick Facts

SNOMED CT
66651005
UMLS CUI
C0333693
Fully Specified Name
Triploidy 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.