1264194006: Congenital amyoplasia (disorder)

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

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
Congenital amyoplasia (disorder)	Finding site	Joint structure of multiple body sites (body structure)	true	Inferred relationship	Some	3
Congenital amyoplasia (disorder)	Associated morphology	Contracture	true	Inferred relationship	Some	3

Inbound Relationships

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Reference Sets

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