Combined immunodeficiency due to CRAC (calcium release activated calcium) channel dysfunction

disorder

SNOMED 717811007CUI C4303571

Overview

Combined immunodeficiency due to CRAC (calcium release activated calcium) channel dysfunction 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.

Amelogenesis imperfecta

Very frequent (80-99%)HP:0000705

Autoimmune disorder

Very frequent (80-99%)HP:0002960

Chronic ear infection

Very frequent (80-99%)HP:0000389

Decreased enamel calcification

Very frequent (80-99%)HP:0011084

Immune deficiency

Very frequent (80-99%)HP:0002721

Infection in blood stream

Very frequent (80-99%)HP:0100806

Iris hypoplasia

Very frequent (80-99%)HP:0007676

Meningitis

Very frequent (80-99%)HP:0001287

Myopathy

Very frequent (80-99%)HP:0003198

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Pneumonia

Very frequent (80-99%)HP:0002090

Pyrexia

Very frequent (80-99%)HP:0001945

Recurrent fungal infections

Very frequent (80-99%)HP:0002841

Recurrent mycobacterial infections

Very frequent (80-99%)HP:0011274

Recurrent viral infections

Very frequent (80-99%)HP:0004429

Susceptibility to pyogenic infection

Very frequent (80-99%)HP:0002718

Enlarged liver

Frequent (30-79%)HP:0002240

Large spleen

Frequent (30-79%)HP:0001744

Lymph node hyperplasia

Frequent (30-79%)HP:0002716

Sweating dysfunction

Frequent (30-79%)HP:0000970

Hemolytic anaemia

Occasional (5-29%)HP:0001878

Oncology

Occasional (5-29%)HP:0002664

Thrombocytopenia

Occasional (5-29%)HP:0001873

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Combined immunodeficiency disease(parent)

Quick Facts

SNOMED CT: 717811007
UMLS CUI: C4303571
Fully Specified Name: Combined immunodeficiency due to calcium release activated calcium channel dysfunction (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

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.