Non-distal trisomy 13q

disorder

SNOMED 764996009CUI C4707260

Overview

Non-distal trisomy 13q 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 antihelix morphology

Very frequent (80-99%)HP:0009738

Abnormality of chromosome segregation

Very frequent (80-99%)HP:0002916

Abnormality of the eyelashes

Very frequent (80-99%)HP:0000499

Absent/underdeveloped ear lobes

Very frequent (80-99%)HP:0009906

Cognitive deficits

Very frequent (80-99%)HP:0100543

Decreased volume of lip vermillion

Very frequent (80-99%)HP:0000233

Hemangiomata

Very frequent (80-99%)HP:0001028

Increased length of philtrum

Very frequent (80-99%)HP:0000343

Low chest circumference

Very frequent (80-99%)HP:0000774

Ocular hypotelorism

Very frequent (80-99%)HP:0000601

Small nose

Very frequent (80-99%)HP:0003196

Thick eyebrow

Very frequent (80-99%)HP:0000574

Triangular head shape

Very frequent (80-99%)HP:0000243

Unibrow

Very frequent (80-99%)HP:0000664

Wide-spaced nipples

Very frequent (80-99%)HP:0006610

Abnormality of the fingernails

Frequent (30-79%)HP:0001231

Arachnodactyly

Frequent (30-79%)HP:0001166

Cryptorchidism

Frequent (30-79%)HP:0000028

Decreased projection of lower jaw

Frequent (30-79%)HP:0000347

Decreased size of cranium

Frequent (30-79%)HP:0000252

Eclabium of lower lip

Frequent (30-79%)HP:0000232

Hernia

Frequent (30-79%)HP:0100790

High arched palate

Frequent (30-79%)HP:0000218

Hypoplastic toenails

Frequent (30-79%)HP:0001800

Postaxial hand polydactyly

Frequent (30-79%)HP:0001162

Tooth abnormalities

Frequent (30-79%)HP:0000164

Aplasia/Hypoplasia affecting the eye

Occasional (5-29%)HP:0008056

Related Conditions

13q partial trisomy syndrome(parent)

Quick Facts

SNOMED CT: 764996009
UMLS CUI: C4707260
Fully Specified Name: Non-distal trisomy 13q (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 27

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.