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77016009: Amyoplasia congenita disruptive sequence (disorder)

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

Descriptions:

Expanded Value Set

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

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

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)

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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
5887681000172113	amyoplasie congénitale de Sheldon	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5133531000172115	amyoplasia congenita	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5133541000172110	congenitale amyoplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)