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, kongenitale	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Amyoplasie, kongenitale	Is a	Arthrogryposis	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Amyoplasie, kongenitale	Is a	Congenital anomaly of skeletal muscle (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Amyoplasie, kongenitale	Finding site	Structure of musculoskeletal system	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Amyoplasie, kongenitale	Associated morphology	Congenital contracture	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Amyoplasie, kongenitale	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Amyoplasie, kongenitale	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Amyoplasie, kongenitale	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Amyoplasie, kongenitale	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Amyoplasie, kongenitale	Is a	Disorder of skeletal muscle	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Amyoplasie, kongenitale	Associated morphology	Contracture	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Amyoplasie, kongenitale	Is a	Muscle contracture	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Amyoplasie, kongenitale	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Amyoplasie, kongenitale	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Amyoplasie, kongenitale	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Amyoplasie, kongenitale	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Amyoplasie, kongenitale	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Amyoplasie, kongenitale	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Amyoplasie, kongenitale	Associated morphology	Contracture	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Amyoplasie, kongenitale	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Amyoplasie, kongenitale	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Amyoplasie, kongenitale	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Amyoplasie, kongenitale	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Amyoplasie, kongenitale	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Amyoplasie, kongenitale	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Amyoplasie, kongenitale	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Amyoplasie, kongenitale	Associated morphology	Contracture	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Amyoplasie, kongenitale	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Amyoplasie, kongenitale	Is a	Congenital anomaly of joint	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Amyoplasie, kongenitale	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Amyoplasie, kongenitale	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Amyoplasie, kongenitale	Has interpretation	Decreased	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Amyoplasie, kongenitale	Interprets	Range of joint movement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Amyoplasie, kongenitale	Finding site	Structure of joint region	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Is a	False	Amyoplasie, kongenitale	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked distal arthrogryposis multiplex congenita (disorder)	Is a	False	Amyoplasie, kongenitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.	Is a	False	Amyoplasie, kongenitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Is a	False	Amyoplasie, kongenitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Arthrogryposis multiplex congenita and whistling face syndrome (disorder)	Is a	False	Amyoplasie, kongenitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Intellectual disability, developmental delay, contracture syndrome	Is a	False	Amyoplasie, kongenitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Arthrogryposis hyperkeratosis syndrome lethal form	Is a	False	Amyoplasie, kongenitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)	Is a	False	Amyoplasie, kongenitale	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypomyelination neuropathy arthrogryposis syndrome (disorder)	Is a	False	Amyoplasie, kongenitale	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic lethal non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed. There is evidence this disease is caused by homozygous mutation in the CNTN1 gene on chromosome 12q12.	Is a	False	Amyoplasie, kongenitale	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

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
127855010	Amyoplasia congenita disruptive sequence	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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
127858012	Arthrogryposis multiplex congenita	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
127858012	Arthrogryposis multiplex congenita	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	Only initial character 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
127860014	Multiple congenital articular rigidities	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
127861013	Congenital arthromyodysplasia	en	Synonym (core metadata concept)	Active	Only initial character 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	Only initial character 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	Only initial character 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
127864017	Congenital multiple arthrogryposis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
127864017	Congenital multiple arthrogryposis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
503436016	AMC - Arthrogryposis multiplex congenita	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
817800016	Amyoplasia congenita disruptive sequence (disorder)	en	Fully specified name	Active	Only initial character 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
3382171001000114	Amyoplasie, kongenitale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3382161001000117	Arthrogryposis multiplex congenita	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3382171001000114	Amyoplasie, kongenitale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module