33994004: Akinesia (finding)

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

\Finding of movement\Motor dysfunction\Akinesia

\Neurological finding (finding)\Motor nervous system finding\Motor dysfunction\Akinesia

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

Descriptions:

Id Description Lang Type Status Case? Module

56754014 Akinesia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

765463010 Akinesia (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1266151000005118 Akinesi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Akinesia	Is a	Motor function behavior finding	false	Inferred relationship	Some
Akinesia	Interprets	Behavior observable	false	Inferred relationship	Some
Akinesia	Interprets	træk vedr. funktion	false	Inferred relationship	Some
Akinesia	Is a	Motor dysfunction	true	Inferred relationship	Some
Akinesia	Interprets	Movement	false	Inferred relationship	Some
Akinesia	Interprets	Movement observable (observable entity)	false	Inferred relationship	Some
Akinesia	Interprets	Movement	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Injection of anesthetic into periorbital region for akinesia (procedure)	Has focus	True	Akinesia	Inferred relationship	Some	2
Multiple pterygium syndrome	Is a	True	Akinesia	Inferred relationship	Some
Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contractures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.	Is a	True	Akinesia	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	True	Akinesia	Inferred relationship	Some
Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydramnios in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.	Is a	True	Akinesia	Inferred relationship	Some
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	True	Akinesia	Inferred relationship	Some
A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported.	Is a	True	Akinesia	Inferred relationship	Some

This concept is not in any reference sets