724093004: Nephropathy, deafness, hyperparathyroidism syndrome (disorder)

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

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

Descriptions:

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

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

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
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
4231331000172116	syndroom van Edwards-Patton-Dilly	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4231341000172111	nefropathie-doofheid-hyperparathyreoïdie-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4231351000172113	syndroom van nefropathie, doofheid en hyperparathyreoïdie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4231361000172110	Edwards-Patton-Dilly-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)