Niemann-Pick disease, type B

disorder

SNOMED 39390005CUI C0268243

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.

Abnormal blood gas level

Frequent (30-79%)HP:0012415

Abnormal circulating lipid concentration

Frequent (30-79%)HP:0003119

Decreased body height

Frequent (30-79%)HP:0004322

Decreased DLCO

Frequent (30-79%)HP:0045051

Decreased liver function

Frequent (30-79%)HP:0001410

Delayed puberty

Frequent (30-79%)HP:0000823

Enlarged liver

Frequent (30-79%)HP:0002240

Hyperlipidemia

Frequent (30-79%)HP:0003077

Hypersplenism

Frequent (30-79%)HP:0001971

Hypoalphalipoproteinemia

Frequent (30-79%)HP:0003233

Increased plasma LDL levels

Frequent (30-79%)HP:0003141

Increased triglycerides

Frequent (30-79%)HP:0002155

Interstitial pneumonitis

Frequent (30-79%)HP:0006515

Interstitial pulmonary disease

Frequent (30-79%)HP:0006530

Large spleen

Frequent (30-79%)HP:0001744

Low platelet count

Frequent (30-79%)HP:0001873

Macular cherry red spot

Frequent (30-79%)HP:0010729

Osteopenia

Frequent (30-79%)HP:0000938

Osteoporosis

Frequent (30-79%)HP:0000939

Progressive pulmonary function impairment

Frequent (30-79%)HP:0006520

Retarded ossification

Frequent (30-79%)HP:0002750

Abnormality of the nervous system

Occasional (5-29%)HP:0000707

Arthritic pain

Occasional (5-29%)HP:0002829

Decreased serum insulin-like growth factor 1

Occasional (5-29%)HP:0030353

Delayed gross motor development

Occasional (5-29%)HP:0002194

Low number of red blood cells or haemoglobin

Occasional (5-29%)HP:0001903

Peripheral neuropathy

Occasional (5-29%)HP:0009830

Respiratory distress requiring endotracheal intubation

Occasional (5-29%)HP:0004887

Acute promyelocytic leukaemia

Very rare (1-4%)HP:0004836

Apraxia

Very rare (1-4%)HP:0002186

Related Conditions

Sphingomyelin/cholesterol lipidosis(parent)

Quick Facts

SNOMED CT: 39390005
UMLS CUI: C0268243
Fully Specified Name: Niemann-Pick disease, type B (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.