724093004: Nephropathy, deafness, hyperparathyroidism syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

\Hereditary nephropathy (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome

\Renal impairment\Renal failure syndrome (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Renal impairment\Renal failure syndrome (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Renal impairment\Renal failure syndrome (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Renal impairment\Renal failure syndrome (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Renal impairment\Renal failure syndrome (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Renal impairment\Renal failure syndrome (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Renal impairment\Renal failure syndrome (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Impaired urinary system function (finding)\Renal impairment\Renal failure syndrome (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Kidney finding\Kidney disease\Renal impairment\Renal failure syndrome (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Renal impairment\Renal failure syndrome (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Renal impairment\Renal failure syndrome (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Renal impairment\Renal failure syndrome (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Renal impairment\Renal failure syndrome (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Renal impairment\Renal failure syndrome (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome

\Finding of neck region\Disease of neck\Disorder of parathyroid gland (disorder)\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 (disorder)\Hearing loss\Hearing loss associated with syndrome\Nephropathy, deafness, hyperparathyroidism syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Nephropathy, deafness, hyperparathyroidism syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Nephropathy, deafness, hyperparathyroidism syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Nephropathy, deafness, hyperparathyroidism syndrome

\Functional finding\Impaired urinary system function (finding)\Renal impairment\Renal failure syndrome (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Functional finding\Finding of renal function (finding)\Renal impairment\Renal failure syndrome (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Nephropathy, deafness, hyperparathyroidism syndrome
\Functional finding\Hearing finding\Hearing disorder (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 (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\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 (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of parathyroid gland (disorder)\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 (disorder)\Hearing loss\Hearing loss associated with syndrome\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Renal impairment\Renal failure syndrome (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Renal impairment\Renal failure syndrome (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Renal impairment\Renal failure syndrome (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Renal impairment\Renal failure syndrome (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Nephropathy, deafness, hyperparathyroidism syndrome
\Disease\Disease of neck\Disorder of parathyroid gland (disorder)\Hyperparathyroidism\Primary hyperparathyroidism\Parathyroid hyperplasia\Nephropathy, deafness, hyperparathyroidism syndrome

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

3481737015 Nephropathy, deafness, hyperparathyroidism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3481738013 Nephropathy, deafness, hyperparathyroidism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3481739017 Edwards Patton Dilly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403223016 A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403224010 A rare syndromic deafness characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3481737015 Nephropathy, deafness, hyperparathyroidism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3481738013 Nephropathy, deafness, hyperparathyroidism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3481739017 Edwards Patton Dilly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

5403223016 A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403224010 A rare syndromic deafness characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3397131001000114 Nephropathie-Schwerhörigkeit-Hyperparathyreoidismus-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3397131001000114 Nephropathie-Schwerhörigkeit-Hyperparathyreoidismus-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Nephropathy, deafness, hyperparathyroidism syndrome	Is a	Parathyroid hyperplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Nephropathy, deafness, hyperparathyroidism syndrome	Is a	Sensorineural hearing loss	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Nephropathy, deafness, hyperparathyroidism syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Nephropathy, deafness, hyperparathyroidism syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Nephropathy, deafness, hyperparathyroidism syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Nephropathy, deafness, hyperparathyroidism syndrome	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Nephropathy, deafness, hyperparathyroidism syndrome	Finding site	Ear structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Nephropathy, deafness, hyperparathyroidism syndrome	Has definitional manifestation	Increased hormone secretion	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Nephropathy, deafness, hyperparathyroidism syndrome	Interprets	Hearing	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Nephropathy, deafness, hyperparathyroidism syndrome	Interprets	entité observable fonctionnelle	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Nephropathy, deafness, hyperparathyroidism syndrome	Associated morphology	Hyperplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Nephropathy, deafness, hyperparathyroidism syndrome	Finding site	Parathyroid structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Nephropathy, deafness, hyperparathyroidism syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Nephropathy, deafness, hyperparathyroidism syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Nephropathy, deafness, hyperparathyroidism syndrome	Has interpretation	Increased	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Nephropathy, deafness, hyperparathyroidism syndrome	Interprets	Hormone secretion	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Nephropathy, deafness, hyperparathyroidism syndrome	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Nephropathy, deafness, hyperparathyroidism syndrome	Is a	Endocrine finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Nephropathy, deafness, hyperparathyroidism syndrome	Associated morphology	Hyperplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Nephropathy, deafness, hyperparathyroidism syndrome	Finding site	Parathyroid structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Nephropathy, deafness, hyperparathyroidism syndrome	Is a	Renal failure syndrome (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Nephropathy, deafness, hyperparathyroidism syndrome	Has interpretation	Impaired (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Nephropathy, deafness, hyperparathyroidism syndrome	Is a	Hereditary nephropathy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Nephropathy, deafness, hyperparathyroidism syndrome	Finding site	Kidney structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Nephropathy, deafness, hyperparathyroidism syndrome	Interprets	Measurement of any function carried out by the kidney or any of its parts as opposed to the function of the whole kidney	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Nephropathy, deafness, hyperparathyroidism syndrome	Interprets	Renal function	true	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Nephropathy, deafness, hyperparathyroidism syndrome	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	7

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3481737015	Nephropathy, deafness, hyperparathyroidism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3481738013	Nephropathy, deafness, hyperparathyroidism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3481739017	Edwards Patton Dilly syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403223016	A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403224010	A rare syndromic deafness characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3481737015	Nephropathy, deafness, hyperparathyroidism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3481738013	Nephropathy, deafness, hyperparathyroidism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3481739017	Edwards Patton Dilly syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403223016	A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403224010	A rare syndromic deafness characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3397131001000114	Nephropathie-Schwerhörigkeit-Hyperparathyreoidismus-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3397131001000114	Nephropathie-Schwerhörigkeit-Hyperparathyreoidismus-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module