Osteogenesis imperfecta, dominant perinatal lethal

disorder

SNOMED 7134007CUI C0268358

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Absent bone maturation of skullcap

Always present (100%)HP:0005623

Bell-shaped chest

Always present (100%)HP:0001591

Crumpled long bones

Always present (100%)HP:0006367

Multiple prenatal fractures

Always present (100%)HP:0005855

Multiple rib fractures

Always present (100%)HP:0006640

Short limbs

Always present (100%)HP:0009826

Slender ribs

Always present (100%)HP:0000883

Thoracic hypoplasia

Always present (100%)HP:0005257

Abnormality of pelvic girdle bone morphology

HP:0002644

Dwarfism, short-limbed

HP:0008873

Extra bones within cranial sutures

HP:0002645

Flattened vertebral bodies

HP:0000926

Grey sclerae

HP:0000592

Heart failure

HP:0001635

Hooked nose

HP:0000444

Large fontanelle

HP:0000239

Low birth weight

HP:0001518

Nonimmune hydrops fetalis

HP:0001790

Premature birth

HP:0001622

Puolmonary valve insufficiency

HP:0010444

Respiratory insufficiency

HP:0002093

Thin skin

HP:0000963

Tibial bowing

HP:0002982

Varying degree of multiple fractures

HP:0002757

Widened long bones

HP:0005622

Related Conditions

Osteogenesis imperfecta, perinatal lethal(parent)

Quick Facts

SNOMED CT: 7134007
UMLS CUI: C0268358
Fully Specified Name: Osteogenesis imperfecta, dominant perinatal lethal (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 25

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.