724093004: Nephropathy, deafness, hyperparathyroidism syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\...

\Hereditary nephropathy\Nephropathy, deafness, hyperparathyroidism syndrome

\Renal impairment\Renal failure\Nephropathy, deafness, hyperparathyroidism 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\Nephropathy, deafness, hyperparathyroidism 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\Renal impairment\Renal failure\Nephropathy, deafness, hyperparathyroidism 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\Nephropathy, deafness, hyperparathyroidism 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\Renal impairment\Renal failure\Nephropathy, deafness, hyperparathyroidism 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\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Renal impairment\Renal failure\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Renal impairment\Renal failure\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Impaired urinary system function\Renal impairment\Renal failure\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Renal impairment\Renal failure\Nephropathy, deafness, hyperparathyroidism 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\Nephropathy, deafness, hyperparathyroidism 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\Renal impairment\Renal failure\Nephropathy, deafness, hyperparathyroidism 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\Nephropathy, deafness, hyperparathyroidism 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\Nephropathy, deafness, hyperparathyroidism 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\Renal impairment\Renal failure\Nephropathy, deafness, hyperparathyroidism 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\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Renal impairment\Renal failure\Nephropathy, deafness, hyperparathyroidism 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\Nephropathy, deafness, hyperparathyroidism 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\Renal impairment\Renal failure\Nephropathy, deafness, hyperparathyroidism 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\Nephropathy, deafness, hyperparathyroidism syndrome

\Finding of head and neck region\Finding of neck region\Disorder of neck\Disorder of parathyroid gland\Hyperparathyroidism\Primary hyperparathyroidism\Parathyroid hyperplasia\Nephropathy, deafness, hyperparathyroidism syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Nephropathy, deafness, hyperparathyroidism syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Nephropathy, deafness, hyperparathyroidism syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Nephropathy, deafness, hyperparathyroidism syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Nephropathy, deafness, hyperparathyroidism syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Nephropathy, deafness, hyperparathyroidism syndrome

\Functional finding\Impaired urinary system function\Renal impairment\Renal failure\Nephropathy, deafness, hyperparathyroidism syndrome
\Functional finding\Finding of renal function\Renal impairment\Renal failure\Nephropathy, deafness, hyperparathyroidism syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Nephropathy, deafness, hyperparathyroidism syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Nephropathy, deafness, hyperparathyroidism syndrome
\Functional finding\Increased hormone secretion\Hyperparathyroidism\Primary hyperparathyroidism\Parathyroid hyperplasia\Nephropathy, deafness, hyperparathyroidism syndrome

\Endocrine finding\Increased hormone secretion\Hyperparathyroidism\Primary hyperparathyroidism\Parathyroid hyperplasia\Nephropathy, deafness, hyperparathyroidism syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of parathyroid gland\Hyperparathyroidism\Primary hyperparathyroidism\Parathyroid hyperplasia\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Nephropathy, deafness, hyperparathyroidism 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\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Renal impairment\Renal failure\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Renal impairment\Renal failure\Nephropathy, deafness, hyperparathyroidism 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\Nephropathy, deafness, hyperparathyroidism 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\Renal impairment\Renal failure\Nephropathy, deafness, hyperparathyroidism 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\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of neck\Disorder of parathyroid gland\Hyperparathyroidism\Primary hyperparathyroidism\Parathyroid hyperplasia\Nephropathy, deafness, hyperparathyroidism syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3481737015 Nephropathy, deafness, hyperparathyroidism syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3481738013 Nephropathy, deafness, hyperparathyroidism syndrome en Synonym Active Case insensitive SNOMED CT core

3481739017 Edwards Patton Dilly syndrome en Synonym Active Case sensitive SNOMED CT core

3481740015 Syndrome that is characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous parents. The mode of inheritance appears to be autosomal recessive. en Definition Active Case sensitive SNOMED CT core

3481741016 Syndrome that is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous parents. The mode of inheritance appears to be autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Nephropathy, deafness, hyperparathyroidism syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Some	3
Nephropathy, deafness, hyperparathyroidism syndrome	Is a	Endocrine finding	false	Inferred relationship	Some
Nephropathy, deafness, hyperparathyroidism syndrome	Associated morphology	Hyperplasia	true	Inferred relationship	Some	1
Nephropathy, deafness, hyperparathyroidism syndrome	Finding site	Parathyroid structure	true	Inferred relationship	Some	1
Nephropathy, deafness, hyperparathyroidism syndrome	Is a	Renal failure	true	Inferred relationship	Some
Nephropathy, deafness, hyperparathyroidism syndrome	Has interpretation	Impaired	false	Inferred relationship	Some	5
Nephropathy, deafness, hyperparathyroidism syndrome	Is a	Hereditary nephropathy	true	Inferred relationship	Some
Nephropathy, deafness, hyperparathyroidism syndrome	Finding site	Kidney structure	true	Inferred relationship	Some	6
Nephropathy, deafness, hyperparathyroidism syndrome	Interprets	Measurement of renal function	false	Inferred relationship	Some	5
Nephropathy, deafness, hyperparathyroidism syndrome	Interprets	Renal function	true	Inferred relationship	Some	7
Nephropathy, deafness, hyperparathyroidism syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	7
Nephropathy, deafness, hyperparathyroidism syndrome	Is a	Parathyroid hyperplasia	true	Inferred relationship	Some
Nephropathy, deafness, hyperparathyroidism syndrome	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
Nephropathy, deafness, hyperparathyroidism syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Nephropathy, deafness, hyperparathyroidism syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Nephropathy, deafness, hyperparathyroidism syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Nephropathy, deafness, hyperparathyroidism syndrome	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Nephropathy, deafness, hyperparathyroidism syndrome	Finding site	Ear structure	false	Inferred relationship	Some	3
Nephropathy, deafness, hyperparathyroidism syndrome	Has definitional manifestation	Increased hormone secretion	false	Inferred relationship	Some
Nephropathy, deafness, hyperparathyroidism syndrome	Interprets	Hearing	true	Inferred relationship	Some	4
Nephropathy, deafness, hyperparathyroidism syndrome	Interprets	Functional observable	false	Inferred relationship	Some
Nephropathy, deafness, hyperparathyroidism syndrome	Associated morphology	Hyperplasia	false	Inferred relationship	Some	5
Nephropathy, deafness, hyperparathyroidism syndrome	Finding site	Parathyroid structure	false	Inferred relationship	Some	5
Nephropathy, deafness, hyperparathyroidism syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Nephropathy, deafness, hyperparathyroidism syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Nephropathy, deafness, hyperparathyroidism syndrome	Has interpretation	Increased	true	Inferred relationship	Some	2
Nephropathy, deafness, hyperparathyroidism syndrome	Interprets	Hormone secretion	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3481737015	Nephropathy, deafness, hyperparathyroidism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3481738013	Nephropathy, deafness, hyperparathyroidism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3481739017	Edwards Patton Dilly syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3481740015	Syndrome that is characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous parents. The mode of inheritance appears to be autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core
3481741016	Syndrome that is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous parents. The mode of inheritance appears to be autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core