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726621009: syndrome d'appendice caudal-surdité (trouble)


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
3451050016 Caudal appendage deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3451051017 Caudal appendage deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3451052012 Lynch Lee Murday syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
762231000241118 syndrome d'appendice caudal-surdité (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
914401000172118 syndrome de Lynch-Lee-Murday fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
929291000172119 syndrome d'appendice caudal-surdité fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3451053019 Syndrome with characteristics of caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. 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
Caudal appendage deafness syndrome (disorder) localisation d'une constatation (attribut) Coccygeal vertebra structure true Inferred relationship Some 2
Caudal appendage deafness syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Caudal appendage deafness syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Caudal appendage deafness syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Caudal appendage deafness syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Caudal appendage deafness syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Caudal appendage deafness syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Caudal appendage deafness syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Caudal appendage deafness syndrome (disorder) localisation d'une constatation (attribut) Entire distal phalanx true Inferred relationship Some 3
Caudal appendage deafness syndrome (disorder) morphologie associée (attribut) Abnormally short growth true Inferred relationship Some 3
Caudal appendage deafness syndrome (disorder) localisation d'une constatation (attribut) testicule (structure corporelle) true Inferred relationship Some 1
Caudal appendage deafness syndrome (disorder) morphologie associée (attribut) Congenital failure to migrate true Inferred relationship Some 1
Caudal appendage deafness syndrome (disorder) est un(e) (attribut) Congenital hearing disorder true Inferred relationship Some
Caudal appendage deafness syndrome (disorder) localisation d'une constatation (attribut) structure du système auditif true Inferred relationship Some 4
Caudal appendage deafness syndrome (disorder) interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 5
Caudal appendage deafness syndrome (disorder) interprète (attribut) Height / growth measure true Inferred relationship Some 6
Caudal appendage deafness syndrome (disorder) a pour interprétation (attribut) altéré true Inferred relationship Some 5
Caudal appendage deafness syndrome (disorder) est un(e) (attribut) brachyphalangie true Inferred relationship Some
Caudal appendage deafness syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Caudal appendage deafness syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Caudal appendage deafness syndrome (disorder) est un(e) (attribut) Congenital anomaly of caudal vertebra true Inferred relationship Some
Caudal appendage deafness syndrome (disorder) est un(e) (attribut) Congenital malposition of testis false Inferred relationship Some
Caudal appendage deafness syndrome (disorder) est un(e) (attribut) Undescended testicle true Inferred relationship Some
Caudal appendage deafness syndrome (disorder) est un(e) (attribut) Hearing loss associated with syndrome true Inferred relationship Some
Caudal appendage deafness syndrome (disorder) est un(e) (attribut) insuffisance staturale true Inferred relationship Some
Caudal appendage deafness syndrome (disorder) localisation d'une constatation (attribut) oreille false Inferred relationship Some 4
Caudal appendage deafness syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Caudal appendage deafness syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Caudal appendage deafness syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Caudal appendage deafness syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
Caudal appendage deafness syndrome (disorder) localisation d'une constatation (attribut) Coccygeal vertebra structure false Inferred relationship Some 5
Caudal appendage deafness syndrome (disorder) morphologie associée (attribut) Abnormally short growth false Inferred relationship Some 4
Caudal appendage deafness syndrome (disorder) localisation d'une constatation (attribut) Entire distal phalanx false Inferred relationship Some 4
Caudal appendage deafness syndrome (disorder) morphologie associée (attribut) Congenital failure to migrate false Inferred relationship Some 6
Caudal appendage deafness syndrome (disorder) localisation d'une constatation (attribut) testicule (structure corporelle) false Inferred relationship Some 6
Caudal appendage deafness syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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