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Monosomy 9p

disorder
SNOMED 771072001CUI C0795830

Overview

Monosomy 9p 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.

4th toe clinodactyly
Always present (100%)HP:0011918
Atria septal defect
Always present (100%)HP:0001631
Cardiac murmur
Always present (100%)HP:0030148
Clinodactyly of the 5th toe
Always present (100%)HP:0001864
Decreased volume of lip vermillion
Always present (100%)HP:0000233
Grey sclerae
Always present (100%)HP:0000592
Hemangiomata
Always present (100%)HP:0001028
Increased length of toes
Always present (100%)HP:0010511
Medially deviated halluces
Always present (100%)HP:0008080
Narrow eyelid opening
Always present (100%)HP:0045025
Narrow forehead
Always present (100%)HP:0000341
Narrow nail
Always present (100%)HP:0011313
Narrow palate
Always present (100%)HP:0000189
Perimembraneous ventricular septal defect
Always present (100%)HP:0011682
Prominent antihelix
Always present (100%)HP:0000395
Prominent philtrum
Always present (100%)HP:0002002
Retrognathia
Always present (100%)HP:0000278
Space between great toe and second toe
Always present (100%)HP:0001852
Speech and language difficulties
Always present (100%)HP:0000750
Abnormal antihelix morphology
Very frequent (80-99%)HP:0009738
Abnormal dermatoglyphics
Very frequent (80-99%)HP:0007477
Absent ears
Very frequent (80-99%)HP:0009892
Attachment of thumb close to wrist
Very frequent (80-99%)HP:0009623
Blepharophimosis
Very frequent (80-99%)HP:0000581
Decreased projection of mandible
Very frequent (80-99%)HP:0000347
Depressed nasal root/bridge
Very frequent (80-99%)HP:0005280
High arched palate
Very frequent (80-99%)HP:0000218
Hypotrophic malar bone
Very frequent (80-99%)HP:0000272
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased length of philtrum
Very frequent (80-99%)HP:0000343

Quick Facts

SNOMED CT
771072001
UMLS CUI
C0795830
Fully Specified Name
Monosomy 9p (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.