Hypoparathyroidism, deafness, renal disease syndrome

disorder

SNOMED 724282009CUI C1840333

Overview

Hypoparathyroidism, deafness, renal disease 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.

Basal ganglion calcification

Always present (100%)HP:0002135

Congenital absence of the vagina

Always present (100%)HP:0003250

Eyelid ptosis

Always present (100%)HP:0000508

Horizontal nystagmus

Always present (100%)HP:0000666

Hypoparathyroidism

Always present (100%)HP:0000829

Intermittent involuntary muscle spasm

Always present (100%)HP:0001281

Primary amenorrhea

Always present (100%)HP:0000786

Progressive bilateral sensorineural hearing loss

Always present (100%)HP:0000408

Pseudopapilledema

Always present (100%)HP:0000538

Renal adysplasia

Always present (100%)HP:0000110

Unilateral renal dysplasia

Always present (100%)HP:0008718

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Hydronephrosis

Frequent (30-79%)HP:0000126

Low blood calcium levels

Frequent (30-79%)HP:0002901

Parathyroid hypoplasia

Frequent (30-79%)HP:0000860

Polycystic kidneys

Frequent (30-79%)HP:0000113

Renal failure

Frequent (30-79%)HP:0000083

Seizures due to hypocalcemia

Frequent (30-79%)HP:0002199

Unilateral renal agenesis

Frequent (30-79%)HP:0000122

VUR

Frequent (30-79%)HP:0000076

Diabetes mellitus

Occasional (5-29%)HP:0000819

Didelphic uterus

Occasional (5-29%)HP:0003762

Septate vagina

Occasional (5-29%)HP:0001153

Abnormally closed or absent vagina

Very rare (1-4%)HP:0000148

Cardiac anomaly

Very rare (1-4%)HP:0001627

Cleft of palate

Very rare (1-4%)HP:0000175

Impaired T cell function

Very rare (1-4%)HP:0011840

Marked growth retardation

Very rare (1-4%)HP:0008850

Psoriasis

Very rare (1-4%)HP:0003765

Retinitis pigmentosa

Very rare (1-4%)HP:0000510

Related Conditions

10p partial monosomy syndrome(parent)

Autosomal dominant hereditary disorder(parent)

Hypoparathyroidism(parent)

Sensorineural hearing loss(parent)

Hearing loss associated with syndrome(parent)

Hereditary disorder of endocrine system(parent)

Hereditary nephropathy(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 724282009
UMLS CUI: C1840333
Fully Specified Name: Hypoparathyroidism, deafness, renal disease syndrome (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.