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726621009: Caudal appendage deafness syndrome (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3451051017 Caudal appendage deafness syndrome en Synonym Active Case insensitive SNOMED CT core
3451052012 Lynch Lee Murday syndrome en Synonym Active Case sensitive SNOMED CT core
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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Caudal appendage deafness syndrome Finding site Coccygeal vertebra structure true Inferred relationship Some 2
Caudal appendage deafness syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Caudal appendage deafness syndrome Occurrence Congenital true Inferred relationship Some 3
Caudal appendage deafness syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Caudal appendage deafness syndrome Occurrence Congenital true Inferred relationship Some 2
Caudal appendage deafness syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Caudal appendage deafness syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Caudal appendage deafness syndrome Occurrence Congenital true Inferred relationship Some 1
Caudal appendage deafness syndrome Finding site Entire distal phalanx true Inferred relationship Some 3
Caudal appendage deafness syndrome Associated morphology Abnormally short growth true Inferred relationship Some 3
Caudal appendage deafness syndrome Finding site Testis structure true Inferred relationship Some 1
Caudal appendage deafness syndrome Associated morphology Congenital failure to migrate true Inferred relationship Some 1
Caudal appendage deafness syndrome Is a Congenital hearing disorder true Inferred relationship Some
Caudal appendage deafness syndrome Finding site Structure of auditory system true Inferred relationship Some 4
Caudal appendage deafness syndrome Interprets Hearing true Inferred relationship Some 5
Caudal appendage deafness syndrome Interprets Height / growth measure true Inferred relationship Some 6
Caudal appendage deafness syndrome Has interpretation Impaired true Inferred relationship Some 5
Caudal appendage deafness syndrome Interprets Intellectual ability true Inferred relationship Some 7
Caudal appendage deafness syndrome Has interpretation Impaired true Inferred relationship Some 7
Caudal appendage deafness syndrome Interprets Adaptation behaviour true Inferred relationship Some 8
Caudal appendage deafness syndrome Has interpretation Impaired true Inferred relationship Some 8
Caudal appendage deafness syndrome Is a Brachyphalangia true Inferred relationship Some
Caudal appendage deafness syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Caudal appendage deafness syndrome Is a Intellectual disability false Inferred relationship Some
Caudal appendage deafness syndrome Is a Congenital anomaly of caudal vertebra true Inferred relationship Some
Caudal appendage deafness syndrome Is a Congenital malposition of testis false Inferred relationship Some
Caudal appendage deafness syndrome Is a Undescended testicle true Inferred relationship Some
Caudal appendage deafness syndrome Is a Hearing loss associated with syndrome true Inferred relationship Some
Caudal appendage deafness syndrome Is a Short stature disorder true Inferred relationship Some
Caudal appendage deafness syndrome Finding site Ear structure false Inferred relationship Some 4
Caudal appendage deafness syndrome Occurrence Congenital true Inferred relationship Some 4
Caudal appendage deafness syndrome Occurrence Congenital false Inferred relationship Some 5
Caudal appendage deafness syndrome Occurrence Congenital false Inferred relationship Some 6
Caudal appendage deafness syndrome Associated morphology Developmental abnormality false Inferred relationship Some 5
Caudal appendage deafness syndrome Finding site Coccygeal vertebra structure false Inferred relationship Some 5
Caudal appendage deafness syndrome Associated morphology Abnormally short growth false Inferred relationship Some 4
Caudal appendage deafness syndrome Finding site Entire distal phalanx false Inferred relationship Some 4
Caudal appendage deafness syndrome Associated morphology Congenital failure to migrate false Inferred relationship Some 6
Caudal appendage deafness syndrome Finding site Testis structure false Inferred relationship Some 6
Caudal appendage deafness syndrome Is a Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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