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	Some
Amyoplasie, kongenitale	Is a	Arthrogryposis	false	Inferred relationship	Some
Amyoplasie, kongenitale	Is a	Congenital anomaly of skeletal muscle	false	Inferred relationship	Some
Amyoplasie, kongenitale	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some	1
Amyoplasie, kongenitale	Associated morphology	Congenital contracture	false	Inferred relationship	Some	1
Amyoplasie, kongenitale	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Amyoplasie, kongenitale	Finding site	Joint structure	false	Inferred relationship	Some	3
Amyoplasie, kongenitale	Finding site	Brain structure	false	Inferred relationship	Some	3
Amyoplasie, kongenitale	Occurrence	Congenital	false	Inferred relationship	Some
Amyoplasie, kongenitale	Is a	Disorder of skeletal muscle	false	Inferred relationship	Some
Amyoplasie, kongenitale	Associated morphology	Contracture	false	Inferred relationship	Some	2
Amyoplasie, kongenitale	Is a	Muscle contracture	false	Inferred relationship	Some
Amyoplasie, kongenitale	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Amyoplasie, kongenitale	Finding site	Joint structure	false	Inferred relationship	Some	4
Amyoplasie, kongenitale	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	false	Inferred relationship	Some
Amyoplasie, kongenitale	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	4
Amyoplasie, kongenitale	Finding site	Joint structure	false	Inferred relationship	Some	1
Amyoplasie, kongenitale	Finding site	Joint structure	false	Inferred relationship	Some	4
Amyoplasie, kongenitale	Associated morphology	Contracture	false	Inferred relationship	Some	1
Amyoplasie, kongenitale	Finding site	Joint structure	false	Inferred relationship	Some	2
Amyoplasie, kongenitale	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Amyoplasie, kongenitale	Finding site	Joint structure	false	Inferred relationship	Some	1
Amyoplasie, kongenitale	Occurrence	Congenital	false	Inferred relationship	Some	3
Amyoplasie, kongenitale	Associated morphology	anomalie du développement	false	Inferred relationship	Some	3
Amyoplasie, kongenitale	Finding site	Joint structure	false	Inferred relationship	Some	3
Amyoplasie, kongenitale	Occurrence	Congenital	false	Inferred relationship	Some	2
Amyoplasie, kongenitale	Associated morphology	Contracture	false	Inferred relationship	Some	2
Amyoplasie, kongenitale	Finding site	Joint structure	false	Inferred relationship	Some	2
Amyoplasie, kongenitale	Is a	Congenital anomaly of joint	false	Inferred relationship	Some
Amyoplasie, kongenitale	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Amyoplasie, kongenitale	Occurrence	Congenital	false	Inferred relationship	Some	1
Amyoplasie, kongenitale	Has interpretation	Decreased	false	Inferred relationship	Some	2
Amyoplasie, kongenitale	Interprets	Range of joint movement	false	Inferred relationship	Some	2
Amyoplasie, kongenitale	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, kongenitale	Inferred relationship	Some
A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.	Is a	False	Amyoplasie, kongenitale	Inferred relationship	Some
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	Some
A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (myopathic stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, microgenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983.	Is a	False	Amyoplasie, kongenitale	Inferred relationship	Some
An extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.	Is a	False	Amyoplasie, kongenitale	Inferred relationship	Some
Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures and intellectual disability.	Is a	False	Amyoplasie, kongenitale	Inferred relationship	Some
A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.	Is a	False	Amyoplasie, kongenitale	Inferred relationship	Some
Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without ophthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.	Is a	False	Amyoplasie, kongenitale	Inferred relationship	Some
Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (including talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.	Is a	False	Amyoplasie, kongenitale	Inferred relationship	Some
Congenital lethal myopathy, Compton-North type is 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.	Is a	False	Amyoplasie, kongenitale	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
3382171001000114	Amyoplasie, kongenitale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module