Glucocorticoid deficiency with achalasia

disorder

SNOMED 45414006CUI C0271742

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.

Absent tear secretion

Very frequent (80-99%)HP:0000522

Achalasia

Very frequent (80-99%)HP:0002571

Generalised hyperpigmentation

Very frequent (80-99%)HP:0007440

Hypoadrenalism

Very frequent (80-99%)HP:0000846

Coughing

Frequent (30-79%)HP:0012735

Failure to thrive in first year of life

Frequent (30-79%)HP:0001531

Feeding difficulties in infancy

Frequent (30-79%)HP:0008872

Hypernasal voice

Frequent (30-79%)HP:0001611

Hypocortisolism

Frequent (30-79%)HP:0008163

Hypoglycemic seizures

Frequent (30-79%)HP:0002173

Hypotension

Frequent (30-79%)HP:0002615

Impaired cortisol response to corticotropin releasing hormone stimulation test

Frequent (30-79%)HP:0031078

Increased circulating ACTH level

Frequent (30-79%)HP:0003154

Keratoderma

Frequent (30-79%)HP:0000982

Low blood sugar

Frequent (30-79%)HP:0001943

Vomiting

Frequent (30-79%)HP:0002013

Weight loss

Frequent (30-79%)HP:0001824

Abnormality of the hypothenar eminence

Occasional (5-29%)HP:0010486

Ataxia

Occasional (5-29%)HP:0001251

Autonomic dysregulation

Occasional (5-29%)HP:0012332

Corneal ulcerations

Occasional (5-29%)HP:0012804

Decreased size of cranium

Occasional (5-29%)HP:0000252

Distal motor neuropathy

Occasional (5-29%)HP:0007002

Increased reflexes

Occasional (5-29%)HP:0001347

Muscular hypotonia

Occasional (5-29%)HP:0001252

Optic atrophy

Occasional (5-29%)HP:0000648

Pes cavus

Occasional (5-29%)HP:0001761

Plantar hyperkeratosis

Occasional (5-29%)HP:0007556

Poor school performance

Occasional (5-29%)HP:0001249

Poor vision

Occasional (5-29%)HP:0000505

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Digestive system hereditary disorder(parent)

Congenital achalasia of esophagus(parent)

Adrenocorticotropic hormone resistance syndrome(parent)

Quick Facts

SNOMED CT: 45414006
UMLS CUI: C0271742
Fully Specified Name: Glucocorticoid deficiency with achalasia (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.