Obesity, early-onset, adrenal insufficiency, and red hair

disorder

SNOMED 702949005CUI C1857854

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.

ACTH deficiency

Always present (100%)HP:0011748

Hypocortisolism

Always present (100%)HP:0008163

Increased fat tissue

Always present (100%)HP:0009126

Obesity

Always present (100%)HP:0001513

Increased appetite

Very frequent (80-99%)HP:0002591

Central adrenal insufficiency

Frequent (30-79%)HP:0011734

Ginger hair colour

Frequent (30-79%)HP:0002297

Hypopigmentation of the skin

Frequent (30-79%)HP:0001010

Impaired growth hormone secretory responses after growth hormone-releasing hormone challenge

Frequent (30-79%)HP:0033579

Slowed or blocked flow of bile from liver

Frequent (30-79%)HP:0001396

Truncal obesity apparent in childhood

Frequent (30-79%)HP:0008915

Acanthosis nigricans

Occasional (5-29%)HP:0000956

Decreased response to growth hormone stimulation test

Occasional (5-29%)HP:0000824

Delayed puberty

Occasional (5-29%)HP:0000823

Delayed skeletal development

Occasional (5-29%)HP:0002750

Growth deficiency

Occasional (5-29%)HP:0001510

Hyperinsulinemia

Occasional (5-29%)HP:0000842

Pituitary gonadotropin deficiency

Occasional (5-29%)HP:0008213

Postnatal failure to thrive

Occasional (5-29%)HP:0001508

TSH deficient hypothyroidism

Occasional (5-29%)HP:0008245

Adrenal hypoplasia

HP:0000835

High blood bilirubin levels

HP:0002904

Hypoadrenalism

HP:0000846

Hypoglycemic seizures

HP:0002173

Related Conditions

Morbid obesity(parent)

Secondary hypoadrenalism(parent)

Quick Facts

SNOMED CT: 702949005
UMLS CUI: C1857854
Fully Specified Name: Proopiomelanocortin deficiency syndrome (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.