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715314008: Distal arthrogryposis type 1 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3302198015 Distal arthrogryposis type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3302199011 Digitotalar dysmorphism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3302200014 Distal arthrogryposis type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3302196016 An autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core US English: Preferred (foundation metadata concept)
3302197013 An autosomal dominant congenital anomaly characterised by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis 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 1 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Distal arthrogryposis type 1 (disorder) Is a Distal arthrogryposis syndrome true Inferred relationship Some
Distal arthrogryposis type 1 (disorder) Associated morphology Contracture true Inferred relationship Some 1
Distal arthrogryposis type 1 (disorder) Occurrence Congenital true Inferred relationship Some 1
Distal arthrogryposis type 1 (disorder) Finding site Joint structure false Inferred relationship Some 1
Distal arthrogryposis type 1 (disorder) Finding site Structure of joint region true Inferred relationship Some 1
Distal arthrogryposis type 1 (disorder) Interprets Range of joint movement true Inferred relationship Some 2
Distal arthrogryposis type 1 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Distal arthrogryposis type 1 (disorder) Has interpretation Decreased true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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