Autosomal dominant isolated somatotropin deficiency

disorder

SNOMED 237687003CUI C0271567

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.

Cobb angle greater than ten degrees

Always present (100%)HP:0002650

Decreased response to growth hormone stimulation test

Always present (100%)HP:0000824

Decreased serum insulin-like growth factor 1

Always present (100%)HP:0030353

Hypoplasia of the pituitary gland

Always present (100%)HP:0010627

Short stature, severe

Always present (100%)HP:0003510

Pituitary dwarfism

HP:0000839

Related Conditions

Isolated somatotropin deficiency(parent)

Quick Facts

SNOMED CT: 237687003
UMLS CUI: C0271567
Fully Specified Name: Isolated growth hormone deficiency - autosomal dominant (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 6

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.