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1264194006: Congenital amyoplasia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5171629014 Congenital amyoplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5171630016 Classic arthrogryposis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5171632012 Amyoplasia congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5171633019 Congenital amyoplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5171631017 A rare sporadic arthrogryposis syndrome with characteristics of multiple congenital contractures presenting in a very specific pattern. It is typically symmetric, involving all four limbs, with internally rotated shoulders, fully extended and fixed elbows, the wrists fixed in flexion, partially flexed fingers, hips fixed in flexion or extension, adducted or abducted and sometimes dislocated. The knees may be fixed in extension or flexion and the feet are usually in severe equinovarus position. The jaw and trunk are relatively spared. Normal limb muscle tissue is replaced by fatty, fibrous tissue. 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
Congenital amyoplasia (disorder) Is a Arthrogryposis true Inferred relationship Some
Congenital amyoplasia (disorder) Interprets Range of joint movement true Inferred relationship Some 2
Congenital amyoplasia (disorder) Has interpretation Decreased true Inferred relationship Some 2
Congenital amyoplasia (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital amyoplasia (disorder) Finding site Structure of joint region true Inferred relationship Some 1
Congenital amyoplasia (disorder) Associated morphology Contracture true Inferred relationship Some 1
Congenital amyoplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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