FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

726621009: Caudal appendage deafness 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
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
5403565014 Caudal appendage-deafness syndrome is characterized by 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
5403566010 Caudal appendage-deafness syndrome is characterised by 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) Is a Brachyphalangia true Inferred relationship Some
Caudal appendage deafness syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Caudal appendage deafness syndrome (disorder) Is a Mental retardation false Inferred relationship Some
Caudal appendage deafness syndrome (disorder) Is a Congenital anomaly of caudal vertebra true Inferred relationship Some
Caudal appendage deafness syndrome (disorder) Is a Congenital malposition of testis false Inferred relationship Some
Caudal appendage deafness syndrome (disorder) Is a Undescended testicle true Inferred relationship Some
Caudal appendage deafness syndrome (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Some
Caudal appendage deafness syndrome (disorder) Is a Short stature disorder true Inferred relationship Some
Caudal appendage deafness syndrome (disorder) Finding site Ear structure false Inferred relationship Some 4
Caudal appendage deafness syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Caudal appendage deafness syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Caudal appendage deafness syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Caudal appendage deafness syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 5
Caudal appendage deafness syndrome (disorder) Finding site Coccygeal vertebra structure false Inferred relationship Some 5
Caudal appendage deafness syndrome (disorder) Associated morphology Abnormally short growth false Inferred relationship Some 4
Caudal appendage deafness syndrome (disorder) Finding site Entire distal phalanx false Inferred relationship Some 4
Caudal appendage deafness syndrome (disorder) Associated morphology Congenital failure to migrate false Inferred relationship Some 6
Caudal appendage deafness syndrome (disorder) Finding site Testis structure false Inferred relationship Some 6
Caudal appendage deafness syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Caudal appendage deafness syndrome (disorder) Finding site 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) Occurrence Congenital 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) Occurrence Congenital 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) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Caudal appendage deafness syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Caudal appendage deafness syndrome (disorder) Finding site Entire distal phalanx true Inferred relationship Some 3
Caudal appendage deafness syndrome (disorder) Associated morphology Abnormally short growth true Inferred relationship Some 3
Caudal appendage deafness syndrome (disorder) Finding site Testis structure true Inferred relationship Some 1
Caudal appendage deafness syndrome (disorder) Associated morphology Congenital failure to migrate true Inferred relationship Some 1
Caudal appendage deafness syndrome (disorder) Is a Congenital hearing disorder true Inferred relationship Some
Caudal appendage deafness syndrome (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Some 4
Caudal appendage deafness syndrome (disorder) Interprets Hearing true Inferred relationship Some 5
Caudal appendage deafness syndrome (disorder) Interprets Height / growth measure true Inferred relationship Some 6
Caudal appendage deafness syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 5
Caudal appendage deafness syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 7
Caudal appendage deafness syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 7
Caudal appendage deafness syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 8
Caudal appendage deafness syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 8

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Back to Start