Autosomal dominant hypocalcemia

disorder

SNOMED 711152006CUI C0342345

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.

Muscle spasm

Always present (100%)HP:0003394

Abnormal electromyography finding

Very frequent (80-99%)HP:0003457

Behavioral changes

Very frequent (80-99%)HP:0000708

Cortical myoclonus

Very frequent (80-99%)HP:0040148

Depressive episode

Very frequent (80-99%)HP:0000716

Emotional lability

Very frequent (80-99%)HP:0000712

Excessive, persistent worry and fear

Very frequent (80-99%)HP:0000739

Fatigable weakness of limb muscles

Very frequent (80-99%)HP:0003473

Hypercalciuria

Very frequent (80-99%)HP:0002150

Low blood calcium levels

Very frequent (80-99%)HP:0002901

Paresthesia

Very frequent (80-99%)HP:0003401

Writer's cramp

Very frequent (80-99%)HP:0002356

Abnormal heart rate

Frequent (30-79%)HP:0011675

Abnormal respiratory patterns

Frequent (30-79%)HP:0002793

Abnormality of the fingernails

Frequent (30-79%)HP:0001231

Dry skin

Frequent (30-79%)HP:0000958

Epilepsy

Frequent (30-79%)HP:0001250

Hair loss

Frequent (30-79%)HP:0001596

Hypermagnesiuria

Frequent (30-79%)HP:0012608

Hyperphosphatemia

Frequent (30-79%)HP:0002905

Hypomagnesemia

Frequent (30-79%)HP:0002917

Hypotension

Frequent (30-79%)HP:0002615

Nail disease

Frequent (30-79%)HP:0001597

Nephrocalcinosis

Frequent (30-79%)HP:0000121

Stomach pain

Frequent (30-79%)HP:0002027

Basal ganglion calcification

Occasional (5-29%)HP:0002135

Decreased body height

Occasional (5-29%)HP:0004322

Decreased bone mineral density Z score

Occasional (5-29%)HP:0004349

Decreased glomerular filtration rate

Occasional (5-29%)HP:0012213

Decreased serum PTH

Occasional (5-29%)HP:0031817

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hypocalcemia(parent)

Familial isolated hypoparathyroidism(parent)

Quick Facts

SNOMED CT: 711152006
UMLS CUI: C0342345
Fully Specified Name: Autosomal dominant hypocalcemia (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.