SNOMED CT

Last uploaded: January 31, 2024
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Preferred Name

Congenital amyoplasia
Synonyms

Amyoplasia congenita
Definitions

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.
ID

http://purl.bioontology.org/ontology/SNOMEDCT/1264194006
Active

1
altLabel

Amyoplasia congenita

Congenital amyoplasia (disorder)

Classic arthrogryposis
CASE SIGNIFICANCE ID

900000000000448009
CTV3ID

XVKHR
cui

C0812412
definition

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.
DEFINITION STATUS ID

900000000000074008
Effective time

20230228
Has associated morphology

http://purl.bioontology.org/ontology/SNOMEDCT/57048009
Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/785818007
Has interpretation

http://purl.bioontology.org/ontology/SNOMEDCT/1250004
Has pathological process

http://purl.bioontology.org/ontology/SNOMEDCT/308490002
interprets

http://purl.bioontology.org/ontology/SNOMEDCT/364564000
notation

1264194006
Occurs in

http://purl.bioontology.org/ontology/SNOMEDCT/255399007
prefLabel

Congenital amyoplasia
Subset member

447562003~MAPRULE~TRUE

900000000000508004~ACCEPTABILITYID~900000000000549004

447562003~MAPGROUP~1

447562003~CORRELATIONID~447561005

900000000000509007~ACCEPTABILITYID~900000000000548007

900000000000497000~MAPTARGET~XVKHR

900000000000508004~ACCEPTABILITYID~900000000000548007

447562003~MAPPRIORITY~1

447562003~MAPCATEGORYID~447637006

447562003~MAPTARGET~Q79.8

447562003~MAPADVICE~ALWAYS Q79.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION

900000000000509007~ACCEPTABILITYID~900000000000549004
tui

T047
Type ID

900000000000003001

900000000000013009
subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/111246005
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