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Trisomy 1 mosaicism

disorder
SNOMED 829974003CUI C5394675

Overview

Trisomy 1 mosaicism 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.

2 vessel cord
Occasional (5-29%)HP:0001195
2-3 finger cutaneous syndactyly
Occasional (5-29%)HP:0001233
Abnormally small eyeball
Occasional (5-29%)HP:0000568
Absence of corpus callosum
Occasional (5-29%)HP:0001274
Aortic coarctation
Occasional (5-29%)HP:0001680
Aplasia of the distal interphalangeal creases
Occasional (5-29%)HP:0001032
Arachnodactyly
Occasional (5-29%)HP:0001166
Atresia of the pulmonary artery
Occasional (5-29%)HP:0004935
Broad 2nd toe
Occasional (5-29%)HP:0100040
Cerebellar vermis hypoplasia
Occasional (5-29%)HP:0001320
Cleft lip, cleft palate
Occasional (5-29%)HP:0000202
Cleft of palate
Occasional (5-29%)HP:0000175
Coarse face
Occasional (5-29%)HP:0000280
Complete duplication of thumb bones
Occasional (5-29%)HP:0009943
Congenital bilateral ptosis
Occasional (5-29%)HP:0007911
Corneal stromal opacity
Occasional (5-29%)HP:0007759
Cortical cysts
Occasional (5-29%)HP:0000803
Deviation of the 5th toe
Occasional (5-29%)HP:0010344
Diaphragmatic hernia
Occasional (5-29%)HP:0000776
Dilatation of lateral cerebral ventricles
Occasional (5-29%)HP:0006956
Down-slanting palpebral fissure
Occasional (5-29%)HP:0000494
Dysplastic ears
Occasional (5-29%)HP:0000377
Finger clinodactyly
Occasional (5-29%)HP:0040019
Fixed flexion at the elbow joint
Occasional (5-29%)HP:0002987
Flat nasal bridge
Occasional (5-29%)HP:0005280
Frontal protuberance
Occasional (5-29%)HP:0002007
Full lower lip
Occasional (5-29%)HP:0000179
Hepatic agenesis
Occasional (5-29%)HP:0100839
Increased amniotic fluid index
Occasional (5-29%)HP:0001561
Increased length of toes
Occasional (5-29%)HP:0010511

Related Conditions

Trisomy and partial trisomy of autosome(parent)
Anomaly of chromosome pair 1(parent)
Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT
829974003
UMLS CUI
C5394675
Fully Specified Name
Mosaic trisomy 1 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.