Pacman dysplasia

disorder

SNOMED 722127006CUI C1833676

Overview

Pacman dysplasia 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 bone maturation

Very frequent (80-99%)HP:0011849

Abnormal calvaria morphology

Very frequent (80-99%)HP:0002683

Bowed long bones

Very frequent (80-99%)HP:0006487

Coarse metaphyseal trabecularization

Very frequent (80-99%)HP:0100670

coronal cleft of vertebrae

Very frequent (80-99%)HP:0003417

Genua vara

Very frequent (80-99%)HP:0002970

Lethal dwarfism identifiable at birth

Very frequent (80-99%)HP:0005716

Ocular hypotelorism

Very frequent (80-99%)HP:0000601

PDA

Very frequent (80-99%)HP:0001643

Stippling of the epiphyses

Very frequent (80-99%)HP:0010655

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Osteolysis(parent)

Hereditary disorder of musculoskeletal system(parent)

Congenital disease(parent)

Quick Facts

SNOMED CT: 722127006
UMLS CUI: C1833676
Fully Specified Name: Pacman dysplasia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 10

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.