Monosomy 9q22.3 syndrome

disorder

SNOMED 724098008CUI C3711390

Overview

Monosomy 9q22.3 syndrome 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.

Abnormality of the vertebral column

Very frequent (80-99%)HP:0000925

Accelerated linear growth

Very frequent (80-99%)HP:0000098

Basal cell carcinoma

Very frequent (80-99%)HP:0002671

Calcification of falx cerebri

Very frequent (80-99%)HP:0005462

Cardiac fibroma

Very frequent (80-99%)HP:0010617

Decreased size of eyeball

Very frequent (80-99%)HP:0000568

Feeding difficulties

Very frequent (80-99%)HP:0011968

Hyperactive behaviour

Very frequent (80-99%)HP:0000752

Large for gestational age

Very frequent (80-99%)HP:0001520

Large head

Very frequent (80-99%)HP:0000256

Lens opacities

Very frequent (80-99%)HP:0000518

Low-set ears

Very frequent (80-99%)HP:0000369

Medulloblastoma

Very frequent (80-99%)HP:0002885

Metopic suture craniosynostosis

Very frequent (80-99%)HP:0011330

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Narrow mouth

Very frequent (80-99%)HP:0000160

Noninflammatory retina disease

Very frequent (80-99%)HP:0000488

Odontogenic keratocysts of the jaw

Very frequent (80-99%)HP:0010603

Oral cleft

Very frequent (80-99%)HP:0000202

Ovarian fibroma

Very frequent (80-99%)HP:0010618

Palmar pits

Very frequent (80-99%)HP:0010610

Palpebronasal fold

Very frequent (80-99%)HP:0000286

Pectus excavatum

Very frequent (80-99%)HP:0000767

Plantar pits

Very frequent (80-99%)HP:0010612

Poor school performance

Very frequent (80-99%)HP:0001249

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Rib anomalies

Very frequent (80-99%)HP:0000772

Short neck

Very frequent (80-99%)HP:0000470

Squint

Very frequent (80-99%)HP:0000486

Triangular head shape

Very frequent (80-99%)HP:0000243

Related Conditions

9q partial monosomy syndrome(parent)

Quick Facts

SNOMED CT: 724098008
UMLS CUI: C3711390
Fully Specified Name: Monosomy 9q22.3 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.