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720515009: Distal arthrogryposis type 6 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3321096014 Distal arthrogryposis type 6 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3321097017 Distal arthrogryposis type 6 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3321098010 Arthrogryposis-like hand anomaly and sensorineural deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3321099019 This syndrome has characteristics of an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Distal arthrogryposis type 6 (disorder) Is a Distal arthrogryposis syndrome true Inferred relationship Some
Distal arthrogryposis type 6 (disorder) Is a Sensorineural hearing loss true Inferred relationship Some
Distal arthrogryposis type 6 (disorder) Is a Contracture of joint of hand true Inferred relationship Some
Distal arthrogryposis type 6 (disorder) Is a Congenital hearing disorder true Inferred relationship Some
Distal arthrogryposis type 6 (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Some
Distal arthrogryposis type 6 (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
Distal arthrogryposis type 6 (disorder) Finding site Ear structure false Inferred relationship Some 3
Distal arthrogryposis type 6 (disorder) Interprets Hearing true Inferred relationship Some 4
Distal arthrogryposis type 6 (disorder) Interprets træk vedr. funktion false Inferred relationship Some
Distal arthrogryposis type 6 (disorder) Associated morphology Contracture false Inferred relationship Some 4
Distal arthrogryposis type 6 (disorder) Occurrence Congenital false Inferred relationship Some 4
Distal arthrogryposis type 6 (disorder) Finding site Hand joint structure false Inferred relationship Some 4
Distal arthrogryposis type 6 (disorder) Is a Longitudinal deficiency of part of limb (disorder) true Inferred relationship Some
Distal arthrogryposis type 6 (disorder) Associated morphology Contracture true Inferred relationship Some 1
Distal arthrogryposis type 6 (disorder) Has interpretation Decreased true Inferred relationship Some 2
Distal arthrogryposis type 6 (disorder) Is a Kuskokwim syndrome false Inferred relationship Some
Distal arthrogryposis type 6 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Distal arthrogryposis type 6 (disorder) Occurrence Congenital true Inferred relationship Some 1
Distal arthrogryposis type 6 (disorder) Is a Congenital anomaly of the hand true Inferred relationship Some
Distal arthrogryposis type 6 (disorder) Finding site Structure of hand joint region (body structure) true Inferred relationship Some 1
Distal arthrogryposis type 6 (disorder) Interprets Hand joint range of movement (observable entity) true Inferred relationship Some 2
Distal arthrogryposis type 6 (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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