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724093004: Nephropathy, deafness, hyperparathyroidism 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
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


0 descendants.

Expanded Value Set


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 Type Active Source Characteristic Refinability Group

Reference Sets

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

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