X-linked agammaglobulinemia with growth hormone deficiency

disorder

SNOMED 234533006CUI C0472813

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.

Decreased body height

Always present (100%)HP:0004322

Delayed puberty

Always present (100%)HP:0000823

Delayed skeletal development

Always present (100%)HP:0002750

Absent circulating B cells

Frequent (30-79%)HP:0030252

Decreased response to growth hormone stimulation test

Frequent (30-79%)HP:0000824

Panypogammaglobulinemia

Frequent (30-79%)HP:0003139

Pink eye

Frequent (30-79%)HP:0000509

Recurrent middle ear infection

Frequent (30-79%)HP:0000403

Abnormal number of T cells

Excluded (<1%)HP:0011839

Brain inflammation

HP:0002383

Deafness

HP:0000365

Diarrhea

HP:0002014

Enteroviral dermatomyositis syndrome

HP:0003729

Enteroviral hepatitis

HP:0001412

Epididymitis

HP:0000031

Meningitis

HP:0001287

Pneumonia

HP:0002090

Prostatitis

HP:0000024

Pyoderma

HP:0000999

Recurrent bacterial infections

HP:0002718

Recurrent enteroviral infections

HP:0002743

Repeated bladder infections

HP:0000010

Septic arthritis

HP:0003095

Sinus disease

HP:0000246

Related Conditions

Disorder of immune structure(parent)

Hereditary disorder of immune system(parent)

Congenital agammaglobulinemia(parent)

X-linked recessive hereditary disease(parent)

Small stature(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 234533006
UMLS CUI: C0472813
Fully Specified Name: X-linked agammaglobulinemia with growth hormone deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.