724282009: Hypoparathyroidism, deafness, renal disease syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
• \Finding of head and neck region\Finding of neck region\Disorder of neck\Disorder of parathyroid gland\Hypoparathyroidism\Hypoparathyroidism, deafness, renal disease syndrome
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Hypoparathyroidism, deafness, renal disease syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Hypoparathyroidism, deafness, renal disease syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Hypoparathyroidism, deafness, renal disease syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Hypoparathyroidism, deafness, renal disease syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Hypoparathyroidism, deafness, renal disease syndrome
• \Functional finding\Decline in functional status\Decreased hormone secretion\Hypoparathyroidism\Hypoparathyroidism, deafness, renal disease syndrome
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Hypoparathyroidism, deafness, renal disease syndrome
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Hypoparathyroidism, deafness, renal disease syndrome
• \Endocrine finding\Decreased hormone secretion\Hypoparathyroidism\Hypoparathyroidism, deafness, renal disease syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Hypoparathyroidism, deafness, renal disease syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Hypoparathyroidism, deafness, renal disease syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hypoparathyroidism, deafness, renal disease syndrome
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 10\10p partial monosomy syndrome\Hypoparathyroidism, deafness, renal disease syndrome
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 10\Deletion of part of chromosome 10\10p partial monosomy syndrome\Hypoparathyroidism, deafness, renal disease syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Hypoparathyroidism, deafness, renal disease syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Hypoparathyroidism, deafness, renal disease syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Hypoparathyroidism, deafness, renal disease syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of parathyroid gland\Hypoparathyroidism\Hypoparathyroidism, deafness, renal disease syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Hypoparathyroidism, deafness, renal disease syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Hypoparathyroidism, deafness, renal disease syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Hypoparathyroidism, deafness, renal disease syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
• \Disease\Disorder of neck\Disorder of parathyroid gland\Hypoparathyroidism\Hypoparathyroidism, deafness, renal disease syndrome
• \Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 10\10p partial monosomy syndrome\Hypoparathyroidism, deafness, renal disease syndrome
• \Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 10\Deletion of part of chromosome 10\10p partial monosomy syndrome\Hypoparathyroidism, deafness, renal disease syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3433585012	Hypoparathyroidism, deafness, renal disease syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3433586013	Hypoparathyroidism, deafness, renal disease syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3433587016	Barakat syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3433588014	HDR (hypoparathyroidism, sensorineural deafness, renal disease) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3433589018	HDR syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3433590010	An inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease. The exact prevalence is unknown, but the disease is considered to be very rare. Patients may present at any age with hypocalcemia, tetany, or afebrile convulsions. Hearing loss is usually bilateral and may range from mild to profound impairment. Renal disease manifestations include nephrotic syndrome, cystic kidney, renal dysplasia, hypoplasia or aplasia, pelvicalyceal deformity, vesicoureteral reflux, chronic renal failure, hematuria, proteinuria and renal scarring. The defect in the majority of cases was mapped to chromosome 10p (10pter-p13 region or 10p14-p15.1). Haploinsufficiency (deletions) of zinc-finger transcription factor GATA3, or mutations in the GATA3 gene appear to be the underlying cause of this syndrome.	en	Definition	Active	Case sensitive	SNOMED CT core
3433591014	An inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease. The exact prevalence is unknown, but the disease is considered to be very rare. Patients may present at any age with hypocalcaemia, tetany, or afebrile convulsions. Hearing loss is usually bilateral and may range from mild to profound impairment. Renal disease manifestations include nephrotic syndrome, cystic kidney, renal dysplasia, hypoplasia or aplasia, pelvicalyceal deformity, vesicoureteral reflux, chronic renal failure, haematuria, proteinuria and renal scarring. The defect in the majority of cases was mapped to chromosome 10p (10pter-p13 region or 10p14-p15.1). Haploinsufficiency (deletions) of zinc-finger transcription factor GATA3, or mutations in the GATA3 gene appear to be the underlying cause of this syndrome.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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