77016009: Amyoplasia congenita disruptive sequence (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Deformity (finding)\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence

\Finding of movement (finding)\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence
\Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Amyoplasia congenita disruptive sequence
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Amyoplasia congenita disruptive sequence
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Amyoplasia congenita disruptive sequence	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	false	Inferred relationship	Some
Amyoplasia congenita disruptive sequence	Is a	Arthrogryposis	true	Inferred relationship	Some
Amyoplasia congenita disruptive sequence	Is a	Congenital anomaly of skeletal muscle	false	Inferred relationship	Some
Amyoplasia congenita disruptive sequence	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some	1
Amyoplasia congenita disruptive sequence	Associated morphology	kongenital kontraktur	false	Inferred relationship	Some	1
Amyoplasia congenita disruptive sequence	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Amyoplasia congenita disruptive sequence	Finding site	Joint structure	false	Inferred relationship	Some	3
Amyoplasia congenita disruptive sequence	Finding site	Brain structure	false	Inferred relationship	Some	3
Amyoplasia congenita disruptive sequence	Occurrence	Congenital	false	Inferred relationship	Some
Amyoplasia congenita disruptive sequence	Is a	Disorder of skeletal muscle	false	Inferred relationship	Some
Amyoplasia congenita disruptive sequence	Associated morphology	Contracture	false	Inferred relationship	Some	2
Amyoplasia congenita disruptive sequence	Is a	Muscle contracture	false	Inferred relationship	Some
Amyoplasia congenita disruptive sequence	Associated morphology	medfödd missbildning	false	Inferred relationship	Some
Amyoplasia congenita disruptive sequence	Finding site	Joint structure	false	Inferred relationship	Some	4
Amyoplasia congenita disruptive sequence	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	true	Inferred relationship	Some
Amyoplasia congenita disruptive sequence	Associated morphology	kongenital anomali	false	Inferred relationship	Some	4
Amyoplasia congenita disruptive sequence	Finding site	Joint structure	false	Inferred relationship	Some	1
Amyoplasia congenita disruptive sequence	Finding site	Joint structure	false	Inferred relationship	Some	4
Amyoplasia congenita disruptive sequence	Associated morphology	Contracture	true	Inferred relationship	Some	1
Amyoplasia congenita disruptive sequence	Finding site	Joint structure	false	Inferred relationship	Some	2
Amyoplasia congenita disruptive sequence	Associated morphology	kongenital anomali	false	Inferred relationship	Some	2
Amyoplasia congenita disruptive sequence	Finding site	Joint structure	false	Inferred relationship	Some	1
Amyoplasia congenita disruptive sequence	Occurrence	Congenital	false	Inferred relationship	Some	3
Amyoplasia congenita disruptive sequence	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	3
Amyoplasia congenita disruptive sequence	Finding site	Joint structure	false	Inferred relationship	Some	3
Amyoplasia congenita disruptive sequence	Occurrence	Congenital	false	Inferred relationship	Some	2
Amyoplasia congenita disruptive sequence	Associated morphology	Contracture	false	Inferred relationship	Some	2
Amyoplasia congenita disruptive sequence	Finding site	Joint structure	false	Inferred relationship	Some	2
Amyoplasia congenita disruptive sequence	Is a	Congenital anomaly of joint	false	Inferred relationship	Some
Amyoplasia congenita disruptive sequence	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Amyoplasia congenita disruptive sequence	Occurrence	Congenital	true	Inferred relationship	Some	1
Amyoplasia congenita disruptive sequence	Has interpretation	Decreased	true	Inferred relationship	Some	2
Amyoplasia congenita disruptive sequence	Interprets	Range of joint movement	true	Inferred relationship	Some	2
Amyoplasia congenita disruptive sequence	Finding site	Structure of joint region	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Is a	True	Amyoplasia congenita disruptive sequence	Inferred relationship	Some
X-linked distal arthrogryposis multiplex congenita (disorder)	Is a	True	Amyoplasia congenita disruptive sequence	Inferred relationship	Some
Van den Ende-Gupta syndrome (disorder)	Is a	True	Amyoplasia congenita disruptive sequence	Inferred relationship	Some
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Is a	True	Amyoplasia congenita disruptive sequence	Inferred relationship	Some
Arthrogryposis multiplex congenita and whistling face syndrome (disorder)	Is a	True	Amyoplasia congenita disruptive sequence	Inferred relationship	Some
Intellectual disability, developmental delay, contracture syndrome (disorder)	Is a	True	Amyoplasia congenita disruptive sequence	Inferred relationship	Some
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Is a	True	Amyoplasia congenita disruptive sequence	Inferred relationship	Some
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)	Is a	True	Amyoplasia congenita disruptive sequence	Inferred relationship	Some
Hypomyelination neuropathy arthrogryposis syndrome (disorder)	Is a	True	Amyoplasia congenita disruptive sequence	Inferred relationship	Some
Congenital lethal myopathy Compton North type	Is a	True	Amyoplasia congenita disruptive sequence	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
127855010	Amyoplasia congenita disruptive sequence	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
127856011	Myodystrophia foetalis deformans	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
127857019	Classic arthrogryposis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
127859016	Myodystrophia fetalis deformans	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
127861013	Congenital arthromyodysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
127862018	Myophagism congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
127863011	Amyoplasia congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
817800016	Amyoplasia congenita disruptive sequence (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1925441000052115	AMC (arthrogryposis multiplex congenita)	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)