Reticular dysgenesis

disorder

SNOMED 111584000CUI C0272167

Overview

Reticular dysgenesis 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.

Abnormality of mitochondrial metabolism

Very frequent (80-99%)HP:0003287

Abnormality of neutrophils

Very frequent (80-99%)HP:0001874

Absent/underdeveloped thymus

Very frequent (80-99%)HP:0010515

Cellular immunodeficiency

Very frequent (80-99%)HP:0005374

Chronic middle ear infection

Very frequent (80-99%)HP:0000389

Decreased circulating immunoglobulin concentration

Very frequent (80-99%)HP:0004313

Diarrhea

Very frequent (80-99%)HP:0002014

Hearing impairment

Very frequent (80-99%)HP:0000365

Infection in blood stream

Very frequent (80-99%)HP:0100806

Leukopenia

Very frequent (80-99%)HP:0001882

Low number of red blood cells or haemoglobin

Very frequent (80-99%)HP:0001903

respiratory infections, recurrent

Very frequent (80-99%)HP:0002205

Severe combined immunodeficiency

Very frequent (80-99%)HP:0004430

Intestinal malabsorption

Frequent (30-79%)HP:0002024

Pyrexia

Frequent (30-79%)HP:0001945

Undergrowth

Frequent (30-79%)HP:0001508

Weight loss

Frequent (30-79%)HP:0001824

Dehydration

Occasional (5-29%)HP:0001944

Open skin sore

Occasional (5-29%)HP:0200042

Skin rash

Occasional (5-29%)HP:0000988

Absent cellular immunity

HP:0005354

Absent leukocyte alkaline phosphatase

HP:0008161

Absolute lymphocyte count decrease

HP:0001888

Combined immunodeficiency

HP:0005387

Congenital agranulocytosis

HP:0005541

Decreased serum IgG

HP:0004315

Erythroid hypoplasia in the bone marrow

HP:0012133

Impaired T cell function

HP:0011840

Lymphoproliferative disorders

HP:0005523

Small thymus

HP:0000778

Related Conditions

Reticular dysgenesis with congenital aleucocytosis(child)

De Vaal's syndrome(child)

Combined immunodeficiency associated with maturation pathway defect(parent)

Disorder of immune structure(parent)

Hereditary white blood cell disorder(parent)

Congenital neutropenia(parent)

Quick Facts

SNOMED CT: 111584000
UMLS CUI: C0272167
Fully Specified Name: Reticular dysgenesis (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.