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Mosaic trisomy 3 syndrome

disorder
SNOMED 764627005CUI C4707012

Overview

Mosaic trisomy 3 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.

Bulging forehead
Frequent (30-79%)HP:0011220
Decreased body height
Frequent (30-79%)HP:0004322
Dysplastic ears
Frequent (30-79%)HP:0000377
Arthritic pain
Occasional (5-29%)HP:0002829
Cardiac anomaly
Occasional (5-29%)HP:0001627
Cleft of palate
Occasional (5-29%)HP:0000175
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Deafness
Occasional (5-29%)HP:0000365
Decreased height of philtrum
Occasional (5-29%)HP:0000322
Dislocated femoral heads
Occasional (5-29%)HP:0002827
Failure to thrive in first year of life
Occasional (5-29%)HP:0001531
Glaucoma
Occasional (5-29%)HP:0000501
Intractable diarrhoea
Occasional (5-29%)HP:0002041
Intrauterine growth retardation, IUGR
Occasional (5-29%)HP:0001511
Loose-jointedness
Occasional (5-29%)HP:0001382
Low-set ears
Occasional (5-29%)HP:0000369
Malnutrition
Occasional (5-29%)HP:0004395
Mental deficiency
Occasional (5-29%)HP:0001249
Near sighted
Occasional (5-29%)HP:0000545
Notched pupil
Occasional (5-29%)HP:0000589
Spina bifida occulta
Occasional (5-29%)HP:0003298
Syndactyly
Occasional (5-29%)HP:0001159
Acute myeloid leukaemia
Very rare (1-4%)HP:0004808

Quick Facts

SNOMED CT
764627005
UMLS CUI
C4707012
Fully Specified Name
Mosaic trisomy 3 syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
23
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.

Mosaic trisomy 3 syndrome — Symptoms, Testing & Specialists | Ltrl | Healos