Familial haemophagocytic lymphohistiocytosis

disorder

SNOMED 398250003CUI C0272199

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.

Abnormality of cachexin secretion

Very frequent (80-99%)HP:0011118

Abnormality of multiple cell lineages in the bone marrow

Very frequent (80-99%)HP:0012145

Abnormality of serum cytokine level

Very frequent (80-99%)HP:0011112

Decreased haemoglobin

Very frequent (80-99%)HP:0001903

Elevated liver enzymes

Very frequent (80-99%)HP:0002910

Hemophagocytosis

Very frequent (80-99%)HP:0012156

Hypoalbuminaemia

Very frequent (80-99%)HP:0003073

Increased circulating interferon-gamma concentration

Very frequent (80-99%)HP:0030356

Increased serum ferritin level

Very frequent (80-99%)HP:0003281

Pyrexia

Very frequent (80-99%)HP:0001945

Thrombocytopenia

Very frequent (80-99%)HP:0001873

Unregulated immune response

Very frequent (80-99%)HP:0002958

Abnormality of skin morphology

Frequent (30-79%)HP:0011121

Abnormality of the coagulation cascade

Frequent (30-79%)HP:0003256

Abnormality of the respiratory system

Frequent (30-79%)HP:0002086

Blood spots

Frequent (30-79%)HP:0000979

Cerebrospinal fluid pleocytosis

Frequent (30-79%)HP:0012229

Cholestatic liver disease

Frequent (30-79%)HP:0002611

Ecchymosis

Frequent (30-79%)HP:0031364

Enlarged liver

Frequent (30-79%)HP:0002240

Erythroderma

Frequent (30-79%)HP:0001019

Increased circulating interleukin 6 concentration

Frequent (30-79%)HP:0030783

Increased triglycerides

Frequent (30-79%)HP:0002155

Large spleen

Frequent (30-79%)HP:0001744

Liver dysfunction

Frequent (30-79%)HP:0001410

Low fibrinogen level

Frequent (30-79%)HP:0011900

Lymph node hyperplasia

Frequent (30-79%)HP:0002716

Neutropoenia

Frequent (30-79%)HP:0001875

Petechiae

Frequent (30-79%)HP:0000967

Reduced natural killer cell activity

Frequent (30-79%)HP:0012177

Related Conditions

Familial disease(parent)

Haemophagocytic lymphohistiocytosis(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary white blood cell disorder(parent)

Quick Facts

SNOMED CT: 398250003
UMLS CUI: C0272199
Fully Specified Name: Familial hemophagocytic lymphohistiocytosis (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.