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

• SNOMED CT Concept\constatation clinique\...
• \Viscus structure finding (finding)\constatation à propos d'un organe abdominal\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Finding of neck region\affection du cou\affection de la glande parathyroïde (trouble)\hypoparathyroïdie\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \constatation fonctionnelle\Decline in functional status (finding)\Decreased hormone secretion\hypoparathyroïdie\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \Endocrine finding\Decreased hormone secretion\hypoparathyroïdie\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \Disease\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 10 (disorder)\10p partial monosomy syndrome\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \Disease\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 10 (trouble)\Deletion of part of chromosome 10 (disorder)\10p partial monosomy syndrome\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\affection de la glande parathyroïde (trouble)\hypoparathyroïdie\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \Disease\affection du cou\affection de la glande parathyroïde (trouble)\hypoparathyroïdie\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \Disease\Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 10 (disorder)\10p partial monosomy syndrome\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
• \Disease\Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 10 (trouble)\Deletion of part of chromosome 10 (disorder)\10p partial monosomy syndrome\Hypoparathyroidism, deafness, renal disease syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3433586013	Hypoparathyroidism, deafness, renal disease syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3433587016	Barakat syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3433588014	HDR (hypoparathyroidism, sensorineural deafness, renal disease) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3433589018	HDR syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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