Infantile malignant osteopetrosis

disorder

SNOMED 367489004CUI C1318518

Overview

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

Treatments & Interventions

Interferon gamma-1b

substance

Signs & Symptoms

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

Abnormal metaphysis morphology

Very frequent (80-99%)HP:0000944

Abnormal visual evoked responses

Very frequent (80-99%)HP:0000649

Abnormality of hair consistency

Very frequent (80-99%)HP:0010719

Abnormality of movement

Very frequent (80-99%)HP:0100022

Albers-Schonberg disease

Very frequent (80-99%)HP:0011002

Anomaly of the epiphyses

Very frequent (80-99%)HP:0005930

Big calvaria

Very frequent (80-99%)HP:0000256

Body temperature changes

Very frequent (80-99%)HP:0004370

Bone pain

Very frequent (80-99%)HP:0002653

Bowed long bones

Very frequent (80-99%)HP:0006487

Chronic rhinitis

Very frequent (80-99%)HP:0002257

Deafness

Very frequent (80-99%)HP:0000365

Decreased bone mineral density Z score

Very frequent (80-99%)HP:0004349

Deformity of the skull

Very frequent (80-99%)HP:0001363

Delayed eruption of teeth

Very frequent (80-99%)HP:0000684

Enlarged liver

Very frequent (80-99%)HP:0002240

Frequent fractures

Very frequent (80-99%)HP:0002757

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

Laboratory abnormality

Very frequent (80-99%)HP:0001939

Large spleen

Very frequent (80-99%)HP:0001744

Low chest circumference

Very frequent (80-99%)HP:0000774

Low number of red blood cells or haemoglobin

Very frequent (80-99%)HP:0001903

Lymph node hyperplasia

Very frequent (80-99%)HP:0002716

Nonsyndromal hydrocephalus

Very frequent (80-99%)HP:0000238

Opsoclonus

Very frequent (80-99%)HP:0010543

Optic nerve compression

Very frequent (80-99%)HP:0007807

Otitis media

Very frequent (80-99%)HP:0000388

Paleness

Very frequent (80-99%)HP:0000980

Poor vision

Very frequent (80-99%)HP:0000505

Premature exfoliation of primary teeth

Very frequent (80-99%)HP:0006323

Related Conditions

Osteopetrosis(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 367489004
UMLS CUI: C1318518
Fully Specified Name: Infantile malignant osteopetrosis (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30
Known Treatments: 1

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.