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57838006: Retinitis pigmentosa-deafness syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1231772018 Usher syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
144081000077115 syndrome associant rétinite pigmentaire et surdité fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
417451000077118 syndrome associant rétinite pigmentaire et surdité (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
796504017 Retinitis pigmentosa-deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
96172019 Retinitis pigmentosa-deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
96173012 Usher's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core


4 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
syndrome associant rétinite pigmentaire et surdité morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
syndrome associant rétinite pigmentaire et surdité Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
syndrome associant rétinite pigmentaire et surdité survenue (attribut) congénital true Inferred relationship Some 4
syndrome associant rétinite pigmentaire et surdité localisation d'une constatation (attribut) structure du système auditif true Inferred relationship Some 4
syndrome associant rétinite pigmentaire et surdité est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
syndrome associant rétinite pigmentaire et surdité est un(e) (attribut) Multisystem disorder (disorder) false Inferred relationship Some
syndrome associant rétinite pigmentaire et surdité est un(e) (attribut) Multisystem disorder U-V (navigational concept) false Inferred relationship Some
syndrome associant rétinite pigmentaire et surdité est un(e) (attribut) rétinite pigmentaire (trouble) false Inferred relationship Some
syndrome associant rétinite pigmentaire et surdité morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 1
syndrome associant rétinite pigmentaire et surdité localisation d'une constatation (attribut) structure de la rétine true Inferred relationship Some 1
syndrome associant rétinite pigmentaire et surdité est un(e) (attribut) Autosomal recessive retinitis pigmentosa true Inferred relationship Some
syndrome associant rétinite pigmentaire et surdité est un(e) (attribut) Congenital malformation true Inferred relationship Some
syndrome associant rétinite pigmentaire et surdité est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
syndrome associant rétinite pigmentaire et surdité est un(e) (attribut) Congenital sensorineural hearing loss (disorder) true Inferred relationship Some
syndrome associant rétinite pigmentaire et surdité localisation d'une constatation (attribut) structure du système auditif false Inferred relationship Some
syndrome associant rétinite pigmentaire et surdité interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 3
syndrome associant rétinite pigmentaire et surdité interprète (attribut) entité observable fonctionnelle false Inferred relationship Some
syndrome associant rétinite pigmentaire et surdité morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
syndrome associant rétinite pigmentaire et surdité survenue (attribut) congénital true Inferred relationship Some 2
syndrome associant rétinite pigmentaire et surdité localisation d'une constatation (attribut) structure de la rétine false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Retinitis pigmentosa-deafness syndrome type 3 (disorder) est un(e) (attribut) True syndrome associant rétinite pigmentaire et surdité Inferred relationship Some
Retinitis pigmentosa-deafness-ataxia syndrome est un(e) (attribut) True syndrome associant rétinite pigmentaire et surdité Inferred relationship Some
Usher syndrome type 1 est un(e) (attribut) True syndrome associant rétinite pigmentaire et surdité Inferred relationship Some
Usher syndrome type 2 est un(e) (attribut) True syndrome associant rétinite pigmentaire et surdité Inferred relationship Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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