Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement

disorder

SNOMED 717787005CUI C1855466

Overview

Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement 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.

Hypercalciuria

Always present (100%)HP:0002150

Hypermagnesiuria

Always present (100%)HP:0012608

Hypomagnesemia

Always present (100%)HP:0002917

Nephrocalcinosis

Always present (100%)HP:0000121

Renal magnesium wasting

Always present (100%)HP:0005567

Abnormal Ca2+ PO4 regulating hormone level

Very frequent (80-99%)HP:0100530

Chorioretinal coloboma

Very frequent (80-99%)HP:0000567

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

Kidney damage

Very frequent (80-99%)HP:0000112

Kidney stones

Very frequent (80-99%)HP:0000787

Macular coloboma

Very frequent (80-99%)HP:0001116

Near sighted

Very frequent (80-99%)HP:0000545

Retinal pigmentary anomaly

Very frequent (80-99%)HP:0007703

End-stage renal disease

Frequent (30-79%)HP:0003774

High urine occult blood

Frequent (30-79%)HP:0000790

Inguinal hernia

Frequent (30-79%)HP:0000023

Repeated bladder infections

Frequent (30-79%)HP:0000010

Umbilical hernia

Occasional (5-29%)HP:0001537

Amelogenesis imperfecta

Very rare (1-4%)HP:0000705

Abnormal circulating calcium concentration

Excluded (<1%)HP:0004363

Abnormal curving of the cornea or lens of the eye

HP:0000483

Kidney Ca wasting

HP:0012637

Progressive renal failure

HP:0012622

Retinitis pigmentosa

HP:0000510

Squint

HP:0000486

Related Conditions

Anomaly of eye(parent)

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis(parent)

Hereditary disorder of the visual system(parent)

Quick Facts

SNOMED CT: 717787005
UMLS CUI: C1855466
Fully Specified Name: Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 25

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.