Overview
Distal monosomy 17q 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 dermatoglyphics
Very frequent (80-99%)HP:0007477
Abnormal metacarpal morphology
Very frequent (80-99%)HP:0005916
Abnormal vertebral bodies
Very frequent (80-99%)HP:0003312
Abnormality of the hips
Very frequent (80-99%)HP:0003272
Abnormality of the philtrum
Very frequent (80-99%)HP:0000288
Abnormality of the thumbs
Very frequent (80-99%)HP:0001172
Aplasia/hypoplasia of palatine uvula
Very frequent (80-99%)HP:0010293
Aplastic/hypoplastic thumbs
Very frequent (80-99%)HP:0009601
Bilateral single transverse palmar creases
Very frequent (80-99%)HP:0007598
Cardiovascular disease
Very frequent (80-99%)HP:0001626
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Disproportionately small hands
Very frequent (80-99%)HP:0200055
Enlarged liver
Very frequent (80-99%)HP:0002240
Finger pointing in a different direction than usual
Very frequent (80-99%)HP:0004097
Heart septal defect
Very frequent (80-99%)HP:0001671
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Micromelia
Very frequent (80-99%)HP:0002983
Microtia
Very frequent (80-99%)HP:0008551
Mongoloid slant
Very frequent (80-99%)HP:0000582
Narrow mouth
Very frequent (80-99%)HP:0000160
Nevocellular nevi
Very frequent (80-99%)HP:0000995
Optic atrophy
Very frequent (80-99%)HP:0000648
PDA
Very frequent (80-99%)HP:0001643
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Premature birth
Very frequent (80-99%)HP:0001622
Prominent frontal suture
Very frequent (80-99%)HP:0005487
Respiratory function loss
Very frequent (80-99%)HP:0002093
Shorter than typical length between neck and abdomen
Very frequent (80-99%)HP:0010306
Unequal size of arms
Very frequent (80-99%)HP:0100560
Related Conditions
Quick Facts
- SNOMED CT
- 732259001
- UMLS CUI
- C4275171
- Fully Specified Name
- Distal monosomy 17q (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.