Wolcott-Rallison dysplasia

disorder

SNOMED 254066006CUI C0432217

Overview

Wolcott-Rallison dysplasia 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 development of the ends of long bones in arms and legs

Always present (100%)HP:0002656

Insulin-resistant diabetes

Always present (100%)HP:0000831

Abnormal skeletal development

Very frequent (80-99%)HP:0002652

Abnormality of the liver

Very frequent (80-99%)HP:0001392

Growth deficiency

Very frequent (80-99%)HP:0001510

Neonatal insulin-dependent diabetes mellitus

Very frequent (80-99%)HP:0000857

Abnormal liver function tests

Frequent (30-79%)HP:0002910

Acute liver failure

Frequent (30-79%)HP:0006554

Low albumin

Frequent (30-79%)HP:0003073

Metaphyseal dysplasia

Frequent (30-79%)HP:0100255

Multiple epiphyseal dysplasia

Frequent (30-79%)HP:0002654

Neutropoenia

Frequent (30-79%)HP:0001875

Weight less than 3rd percentile

Frequent (30-79%)HP:0004325

Brain imaging abnormality

Occasional (5-29%)HP:0410263

Central hypothyroidism

Occasional (5-29%)HP:0011787

Cognitive delay

Occasional (5-29%)HP:0001263

Dehydration

Occasional (5-29%)HP:0001944

Enlarged liver

Occasional (5-29%)HP:0002240

Exocrine pancreatic insufficiency

Occasional (5-29%)HP:0001738

Gait disturbance

Occasional (5-29%)HP:0001288

High blood ammonia levels

Occasional (5-29%)HP:0001987

High blood bilirubin levels

Occasional (5-29%)HP:0002904

Hypothyroidism

Occasional (5-29%)HP:0000821

Increased total lymphocyte count

Occasional (5-29%)HP:0100827

Iron-deficiency anaemia

Occasional (5-29%)HP:0001891

Ketoacidosis

Occasional (5-29%)HP:0001993

Mental-retardation

Occasional (5-29%)HP:0001249

Muscle weakness

Occasional (5-29%)HP:0001324

Predisposition to infections

Occasional (5-29%)HP:0002719

Progressive renal failure

Occasional (5-29%)HP:0012622

Related Conditions

Multiple epiphyseal dysplasia(parent)

Quick Facts

SNOMED CT: 254066006
UMLS CUI: C0432217
Fully Specified Name: Wolcott-Rallison dysplasia (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.