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Maternal uniparental disomy of chromosome 9

disorder
SNOMED 766240006CUI C4707721

Overview

Maternal uniparental disomy of chromosome 9 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.

Cognitive delay
Very frequent (80-99%)HP:0001263
Dislocated patellae
Very frequent (80-99%)HP:0002999
Elbow ankylosis
Very frequent (80-99%)HP:0003070
Feeding difficulties
Very frequent (80-99%)HP:0011968
Hamstring contractures
Very frequent (80-99%)HP:0003089
Hypoplastic mandible condyle
Very frequent (80-99%)HP:0000347
Incomprehensible speech
Very frequent (80-99%)HP:0002546
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
Kyphoscoliosis
Very frequent (80-99%)HP:0002751
Less than 10 fetal movements in 12 hours
Very frequent (80-99%)HP:0001558
Low-set ears
Very frequent (80-99%)HP:0000369
Nail overcurvature
Very frequent (80-99%)HP:0001795
Near sighted
Very frequent (80-99%)HP:0000545
Osteochondrosis
Very frequent (80-99%)HP:0040188
Postnatal failure to thrive
Very frequent (80-99%)HP:0001508
Short neck
Very frequent (80-99%)HP:0000470
Unbalanced face
Very frequent (80-99%)HP:0000324
Vertebral anomalies
Very frequent (80-99%)HP:0003468
Vertical enlargement of face
Very frequent (80-99%)HP:0000276
Congenital hypothyroidism
Occasional (5-29%)HP:0000851
Retinal dysgenesis
Occasional (5-29%)HP:0007973

Quick Facts

SNOMED CT
766240006
UMLS CUI
C4707721
Fully Specified Name
Maternal uniparental disomy of chromosome 9 (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
21
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.

Maternal uniparental disomy of chromosome 9 — Symptoms, Testing & Specialists | Ltrl | Healos