Autosomal recessive deoxyribonucleic acid repair defect due to NSMCE3 deficiency

disorder

SNOMED 1354861009CUI C4310653

Overview

Autosomal recessive deoxyribonucleic acid repair defect due to NSMCE3 deficiency 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.

Abnormal deposits of calcium in the brain

Always present (100%)HP:0002514

Constrictive bronchiolitis

Always present (100%)HP:0011946

Decreased proportion of CD4-positive T cells

Always present (100%)HP:0032218

Decreased proportion of CD8-positive T cells

Always present (100%)HP:0005415

Failure to thrive in first year of life

Always present (100%)HP:0001531

Impaired delayed hypersensitivity

Always present (100%)HP:0002972

Increased IgM levels

Always present (100%)HP:0003496

Increased sensitivity to ionizing radiation

Always present (100%)HP:0011133

Thymic hypoplasia

Always present (100%)HP:0000778

Eczema

Frequent (30-79%)HP:0000964

High immunoglobulin E

Frequent (30-79%)HP:0003212

Wider-than-typical soft spot of skull

Frequent (30-79%)HP:0000260

Birth weight less than 10th percentile

Occasional (5-29%)HP:0001518

Concave bridge of nose

Occasional (5-29%)HP:0005280

Increased distance between eyes

Occasional (5-29%)HP:0000316

Small midface

Occasional (5-29%)HP:0011800

Truncal hypotonia

Occasional (5-29%)HP:0008936

Feeding difficulties

HP:0011968

Psychomotor retardation, mild

HP:0011342

Reduced antigen-specific T cell proliferation

HP:0031402

Related Conditions

Connective tissue hereditary disorder(parent)

Hereditary disorder of immune system(parent)

Chronic disease of immune function(parent)

Combined immunodeficiency disease(parent)

Recessive hereditary disorder (autosomal)(parent)

Chronic interstitial lung disease(parent)

Quick Facts

SNOMED CT: 1354861009
UMLS CUI: C4310653
Fully Specified Name: Lung disease, immunodeficiency, chromosome breakage syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 20

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.