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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
3321096014 Distal arthrogryposis type 6 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321097017 Distal arthrogryposis type 6 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
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
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


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 false 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 false 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 entité observable fonctionnelle 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 hand (disorder) false 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
Distal arthrogryposis type 6 (disorder) Is a Congenital deformity of hand (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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