Adrenomyodystrophy

disorder

SNOMED 763311001CUI C1846044

Overview

Adrenomyodystrophy 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.

Abnormal electromyography finding

Very frequent (80-99%)HP:0003457

Abnormality of the intestine

Very frequent (80-99%)HP:0002242

Abnormality of the urinary system

Very frequent (80-99%)HP:0000079

Addison's disease

Very frequent (80-99%)HP:0008207

Megacystis

Very frequent (80-99%)HP:0000021

Megalocornea

Very frequent (80-99%)HP:0000485

Myopathy

Very frequent (80-99%)HP:0003198

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Poor weight gain

Very frequent (80-99%)HP:0001508

Severe psychomotor retardation

Very frequent (80-99%)HP:0011344

Decreased body height

Frequent (30-79%)HP:0004322

Decreased bone mineral density Z score

Frequent (30-79%)HP:0004349

Epilepsy

Frequent (30-79%)HP:0001250

Fatty liver

Frequent (30-79%)HP:0001397

Generalised hyperpigmentation

Frequent (30-79%)HP:0007440

Retarded ossification

Frequent (30-79%)HP:0002750

Related Conditions

X-linked hereditary disease(parent)

Hereditary disorder of endocrine system(parent)

Adrenal cortical hypofunction(parent)

Quick Facts

SNOMED CT: 763311001
UMLS CUI: C1846044
Fully Specified Name: Adrenomyodystrophy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

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.