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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
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) localisation d'une constatation (attribut) structure du système auditif true Inferred relationship Some 3
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) est un(e) (attribut) Endocrine finding false Inferred relationship Some
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) morphologie associée (attribut) Hyperplasia (morphologic abnormality) true Inferred relationship Some 1
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) localisation d'une constatation (attribut) Parathyroid structure true Inferred relationship Some 1
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) est un(e) (attribut) syndrome d'insuffisance rénale (trouble) true Inferred relationship Some
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) a pour interprétation (attribut) altéré true Inferred relationship Some 5
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) est un(e) (attribut) Hereditary nephropathy (disorder) true Inferred relationship Some
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) localisation d'une constatation (attribut) structure d'un rein true Inferred relationship Some 6
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) interprète (attribut) Measurement of renal function true Inferred relationship Some 5
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) est un(e) (attribut) Parathyroid hyperplasia true Inferred relationship Some
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) est un(e) (attribut) Sensorineural hearing loss true Inferred relationship Some
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) est un(e) (attribut) Hearing loss associated with syndrome true Inferred relationship Some
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) est un(e) (attribut) Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) localisation d'une constatation (attribut) oreille false Inferred relationship Some 3
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) est défini par la manifestation de (attribut) Increased hormone secretion false Inferred relationship Some
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 4
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) interprète (attribut) entité observable fonctionnelle false Inferred relationship Some
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) morphologie associée (attribut) Hyperplasia (morphologic abnormality) false Inferred relationship Some 5
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) localisation d'une constatation (attribut) Parathyroid structure false Inferred relationship Some 5
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) est un(e) (attribut) Congenital hearing disorder false Inferred relationship Some
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) a pour interprétation (attribut) augmenté true Inferred relationship Some 2
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) interprète (attribut) Hormone secretion true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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