Nephrogenic diabetes insipidus and intracranial calcification syndrome

disorder

SNOMED 716200002CUI C2931070

Overview

Nephrogenic diabetes insipidus and intracranial calcification syndrome 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 antihelix morphology

Very frequent (80-99%)HP:0009738

Abnormal deposits of calcium in the brain

Very frequent (80-99%)HP:0002514

Decreased body height

Very frequent (80-99%)HP:0004322

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Flattening of the zygomatic bone

Very frequent (80-99%)HP:0010669

Hypoplastic mandible

Very frequent (80-99%)HP:0000347

Increased tooth count

Very frequent (80-99%)HP:0011069

Laboratory abnormality

Very frequent (80-99%)HP:0001939

Limitation of joint mobility

Very frequent (80-99%)HP:0001376

Mental-retardation

Very frequent (80-99%)HP:0001249

Nephrogenic diabetes insipidus

Very frequent (80-99%)HP:0009806

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Rotting teeth

Very frequent (80-99%)HP:0000670

Delayed puberty

Frequent (30-79%)HP:0000823

Hearing loss, conductive

Frequent (30-79%)HP:0000405

Related Conditions

Nephrogenic diabetes insipidus(parent)

Lesion of brain(parent)

Calcinosis(parent)

Degenerative brain disorder(parent)

Genetic disease(parent)

Quick Facts

SNOMED CT: 716200002
UMLS CUI: C2931070
Fully Specified Name: Arginine vasopressin resistance, intracranial calcification, short stature, facial dysmorphism syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.