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255314001: Progressive (qualifier value)

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
380497019 Progressive en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646336011 Progressive (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
138851000077114 progressif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Progressive Is a Behaviour descriptors true Inferred relationship Some
Progressive Is a Chronic true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, with characteristics of retinal atrophy and retinal detachment leading to loss of central vision, then peripheral vision, and eventually blindness. Clinical course True Progressive Inferred relationship Some 2
Lipoid dermatoarthritis Clinical course True Progressive Inferred relationship Some 4
A rare genetic neurometabolic disease characterized by childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation, and elevated plasma levels of glutamine. Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy. Clinical course True Progressive Inferred relationship Some 2
Progressive shortening of uterine cervix Clinical course True Progressive Inferred relationship Some 2
Amyotrophic lateral sclerosis, parkinsonism, dementia complex of Kii Peninsula (disorder) Clinical course True Progressive Inferred relationship Some 3
Amyotrophic lateral sclerosis, parkinsonism, dementia complex of West New Guinea (disorder) Clinical course True Progressive Inferred relationship Some 3
Alexander disease juvenile form Clinical course False Progressive Inferred relationship Some 3
Alexander disease type I (disorder) Clinical course True Progressive Inferred relationship Some 3
Alexander disease adult form Clinical course False Progressive Inferred relationship Some 4
Autosomal dominant complex hereditary spastic paraplegia (disorder) Clinical course True Progressive Inferred relationship Some 3
A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure. Clinical course True Progressive Inferred relationship Some 5
A rare genetic syndromic intellectual disability characterised by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioural abnormalities (with mood instability, aggression, and self-mutilation), and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum, and prominent chin. Clinical course True Progressive Inferred relationship Some 6
A rare genetic neurological disorder characterized by the association of congenital spastic paraplegia with global developmental delay and intellectual disability, ophthalmologic abnormalities (including nystagmus, reduced visual acuity, or hypermetropia), and obesity. Additional manifestations are brachy plagiocephaly and dysmorphic facial features. Brain imaging may show dilated ventricles, abnormal myelination, and mild generalized atrophy. Homozygous loss-of-function variants of KIDINS220 associated with a fetal lethal phenotype with ventriculomegaly and limb contractures have been reported. Clinical course True Progressive Inferred relationship Some 5
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. Clinical course True Progressive Inferred relationship Some 5
A rare genetic bone disease characterized by multifocal, painless, benign fibrocemento-osseous lesions of the jaws which expand progressively and can cause severe facial deformity. It usually manifests at an early age and is often associated with abnormalities of the long bones and pathologic fractures. Radiologically, the lesions are of mixed radiopaque/radiolucent appearance. Incomplete surgical removal may lead to more rapid growth of the residual lesion. Clinical course True Progressive Inferred relationship Some 2
A rare, genetic, macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region. Clinical course True Progressive Inferred relationship Some 3
Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region. Clinical course True Progressive Inferred relationship Some 3
Benign monomelic amyotrophy of lower limb (disorder) Clinical course True Progressive Inferred relationship Some 2
Benign monomelic amyotrophy of upper limb (disorder) Clinical course True Progressive Inferred relationship Some 2
A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault. Clinical course True Progressive Inferred relationship Some 3
Birnbaum's syndrome Clinical course True Progressive Inferred relationship Some 5
Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency. Clinical course True Progressive Inferred relationship Some 3
Chronic progressive non-hereditary chorea Clinical course True Progressive Inferred relationship Some 1
Progressive internal resorption of tooth caused by bacteria (disorder) Clinical course True Progressive Inferred relationship Some 2
Friedreich ataxia Clinical course True Progressive Inferred relationship Some 3
A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset cerebellar ataxia, variably combined with sensory axonal neuropathy. Patients may present gait and limb ataxia, dysarthria, abnormal oculomotor function, and distal sensory impairment. Cerebellar atrophy is typically mild or absent. Clinical course True Progressive Inferred relationship Some 3
A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy. Clinical course True Progressive Inferred relationship Some 3
A rare autosomal recessive limb-girdle muscular dystrophy characterized by childhood to adult onset of slowly progressive limb girdle muscular weakness, often accompanied by calf hypertrophy, and moderately elevated creatine kinase levels. Patients remain ambulatory but may variably present mild intellectual disability, seizures, migraine, or cardiopulmonary involvement. Occurrence of dilated cardiomyopathy has been reported. Brain MRI typically shows hyperintensity in T2-weighted sequences. Muscle biopsy commonly reveals dystrophic features. Clinical course True Progressive Inferred relationship Some 2
A rare autosomal recessive limb-girdle muscular dystrophy characterized by infantile to adolescent onset of a milder form of limb-girdle muscular dystrophy with or without intellectual disability. Patients present variable proximal limb muscular weakness with calf hypertrophy and elevated serum creatine kinase. Clinical course True Progressive Inferred relationship Some 2
A rare autosomal dominant limb-girdle muscular dystrophy characterized by adult onset of proximal muscle weakness, pain, and wasting predominantly affecting the proximal leg, lumbar paraspinal, and medial gastrocnemius muscles. Upper limb involvement may also be observed in some cases. Serum creatine kinase is often, but not always, elevated, and muscle biopsy shows non-specific myopathic changes. The severity of the disease is variable, although most patients remain ambulatory. Clinical course True Progressive Inferred relationship Some 2
A rare mitochondrial disease characterized by early infantile onset of progressive neurological deterioration with seizures, spasticity, and lack of psychomotor development. Brain imaging shows severe leukodystrophy and abnormalities of neuronal migration. Lactic acidosis is common. The disease is usually fatal in early childhood. Clinical course True Progressive Inferred relationship Some 4
A rare mitochondrial disease characterized by onset of episodic developmental regression in the first year of life, often in the setting of febrile illnesses, as well as hypotonia and seizures or refractory epileptic encephalopathy. Other observed features include ataxia, dystonia, or optic atrophy, among others. Patients do not achieve independent ambulation or meaningful speech. Brain imaging may show progressive cerebellar or diffuse atrophy and signal abnormalities of the basal ganglia. Serum lactate is often elevated. Clinical course True Progressive Inferred relationship Some 3
A rare primary myoclonus characterized by progressive, involuntary, irregular, clonic or tonic contractions of the muscles innervated by the facial nerve (cranial nerve VII). The symptoms are typically strictly unilateral, mostly persist during sleep, and often occur in the region of the orbicularis oculi muscle first and gradually spread to other parts of the affected half of the face as the disease progresses. Both familial and acquired forms are reported. Clinical course True Progressive Inferred relationship Some 3
hémispasme facial clonique Clinical course False Progressive Inferred relationship Some 3
Hemifacial spasm of right facial nerve Clinical course True Progressive Inferred relationship Some 3
Hemifacial spasm of left facial nerve Clinical course True Progressive Inferred relationship Some 3
Bilateral hemifacial spasm Clinical course True Progressive Inferred relationship Some 5
A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association. Clinical course True Progressive Inferred relationship Some 1
A rare primary bone dysplasia with multiple joint dislocations characterized by stunted stature, articular hypermobility and spinal malalignment resulting in severe progressive kyphosis. Joint dislocations include bilateral dislocation of the radial heads with elbow contractures, feet (bilateral talipes equinovarus) and congenital dislocations of the hip and genu valgus. Joint laxity is particularly observed in fingers. Spinal changes include moderate platyspondyly with anterior projection of the vertebral bodies. Facial features of oval face with a flattened nasal bridge, button nose, long upper lip, prominent eyes and blue sclera are characteristic but variable. Patients may also present mild skin extensibility, spatulate terminal phalanges, lip and palate clefts, micrognathia and structural cardiac malformations. Clinical course True Progressive Inferred relationship Some 5
A rare primary bone dysplasia characterized by multiple joint dislocations, in particular in hips and knees present at birth, but the elbows, wrists, ankles, and patellae can also be affected; severe joint laxity, scoliosis, slender fingers with distal tapering, and growth deficiency developing in the post-natal period resulting in short stature. Gracile metacarpals and metatarsals, delayed bone age with poorly ossified carpal and tarsal bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia are radiographical signs. Intelligence is usually normal. Clinical course True Progressive Inferred relationship Some 6
Disease with characteristics of early childhood onset of severe progressive liver disease. Caused by homozygous or compound heterozygous mutation in the TJP2 gene on chromosome 9q21. Clinical course True Progressive Inferred relationship Some 1
A clinically heterogeneous progressive condition characterised by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. Clinical course True Progressive Inferred relationship Some 3
Essential iris atrophy of bilateral eyes (disorder) Clinical course True Progressive Inferred relationship Some 5
Essential iris atrophy of right eye (disorder) Clinical course True Progressive Inferred relationship Some 3
Essential iris atrophy of left eye (disorder) Clinical course True Progressive Inferred relationship Some 3
Sorsby pseudoinflammatory fundus dystrophy of right eye (disorder) Clinical course True Progressive Inferred relationship Some 2
Sorsby pseudoinflammatory fundus dystrophy of left eye (disorder) Clinical course True Progressive Inferred relationship Some 2
Sorsby pseudoinflammatory fundus dystrophy of bilateral eyes (disorder) Clinical course True Progressive Inferred relationship Some 3
A rare acquired motor neuron disease with characteristics of an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period. Clinical course True Progressive Inferred relationship Some 3
A rare genetic neurological disorder characterised by congenital or early-onset sensorineural deafness and adult-onset progressive leucoencephalopathy. Progressive cognitive impairment and behavioural abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported. Clinical course True Progressive Inferred relationship Some 2
A form of pontocerebellar hypoplasia characterised by severe, progressive microcephaly and severe global developmental delay apparent from birth, severe intellectual disability with lack of social interactions and absence of speech, and pontocerebellar hypoplasia and complete or partial agenesis of the corpus callosum on brain imaging. In addition, affected individuals often present hypotonia, spastic tetraplegia, and early-onset seizures. Chronic anaemia and thrombocytopenia have also been reported. Clinical course True Progressive Inferred relationship Some 7
A rare genetic neurological disorder with characteristics of childhood to adolescence onset of progressive demyelination occurring in episodes, sensorimotor polyneuropathy, and hearing loss. Disease progression and severity is variable. In general, in an increasing and decreasing course, patients eventually develop respiratory insufficiency, loss of motor skills and ambulation, ataxia, and cognitive decline. Vision problems and skin rashes are commonly reported. Clinical course True Progressive Inferred relationship Some 3
A rare genetic neurological disorder with characteristics of childhood onset of severe global neurodevelopmental regression with eventual loss of independent walking and loss of language and fine and gross motor skills, and development of severe dysphagia requiring tube feeding, seizures, cerebellar syndrome, dystonia, and other neurologic manifestations. Brain imaging shows progressive cerebral and/or cerebellar atrophy in most cases. A less severe phenotype associated with missense mutations shows no regression or movement abnormalities, ambulation is preserved, and brain imaging is normal. Clinical course True Progressive Inferred relationship Some 2
A rare hereditary ataxia with characteristics of adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis. Clinical course True Progressive Inferred relationship Some 3
A rare genetic neurological syndrome of variable severity with characteristics of progressive spasticity affecting predominantly the lower limbs. Most patients manifest global developmental delay, moderate to severe intellectual disability and white matter abnormalities in infancy complicated by variable features including seizures, episodic respiratory failure, joint contractures and ocular problems. Some patients have normal early development until later childhood followed by regression in motor, cognitive and language skills over time. Some patients manifest only spastic paraplegia. Clinical course True Progressive Inferred relationship Some 4
A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter. Clinical course True Progressive Inferred relationship Some 6
Acquired progressive esotropia due to high myopia (disorder) Clinical course True Progressive Inferred relationship Some 2
A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported. Clinical course True Progressive Inferred relationship Some 11
An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms. Clinical course True Progressive Inferred relationship Some 4
Corticobasal degeneration Clinical course True Progressive Inferred relationship Some 4
Juvenile Parkinson's disease Clinical course True Progressive Inferred relationship Some 2
Orthostatic hypotension co-occurrent and due to Parkinson's disease (disorder) Clinical course True Progressive Inferred relationship Some 1
Atypical Parkinsonism (disorder) Clinical course True Progressive Inferred relationship Some 2
Sporadic Parkinson disease (disorder) Clinical course True Progressive Inferred relationship Some 2
A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms. Clinical course True Progressive Inferred relationship Some 2
A rare, genetic, parkinsonian disorder characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most forms of this disease. Clinical course True Progressive Inferred relationship Some 2
A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients. Clinical course True Progressive Inferred relationship Some 6
Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID). Clinical course True Progressive Inferred relationship Some 2
Multiple system atrophy, Parkinson variant (disorder) Clinical course True Progressive Inferred relationship Some 3
Parkinson's disease Clinical course True Progressive Inferred relationship Some 3
Psychosis co-occurrent and due to Parkinson's disease (disorder) Clinical course True Progressive Inferred relationship Some 4
Autosomal recessive familial Parkinson disease Clinical course True Progressive Inferred relationship Some 2
A rare clinical situation occurring in the context of Parkinson disease characterized by return or worsening of symptoms (including motor and/or non-motor symptoms) under antiparkinsonian therapy. Types of off-periods are Morning Off (experienced before the first dose of the day), Delayed On (occurring more frequently after the first dose of the day or after meals), Wearing Off (end-of-dose deterioration), Sudden Off (sudden transition from on to off), and Dose Failure. Clinical course True Progressive Inferred relationship Some 3
Werdnig-Hoffmann disease Clinical course True Progressive Inferred relationship Some 2
Adult spinal muscular atrophy Clinical course True Progressive Inferred relationship Some 2
Kugelberg-Welander disease Clinical course True Progressive Inferred relationship Some 2
Spinal muscular atrophy Clinical course True Progressive Inferred relationship Some 2
Spinal muscular atrophy, type II Clinical course True Progressive Inferred relationship Some 2
Progressive bulbar palsy of childhood Clinical course True Progressive Inferred relationship Some 3
Distal spinal muscular atrophy Clinical course True Progressive Inferred relationship Some 2
Scapuloperoneal spinal muscular atrophy Clinical course True Progressive Inferred relationship Some 2
Facioscapulohumeral spinal muscular atrophy Clinical course True Progressive Inferred relationship Some 2
Facioscapulohumeral spinal muscular atrophy with sensory loss Clinical course True Progressive Inferred relationship Some 2
Scapulohumeral spinal muscular atrophy Clinical course True Progressive Inferred relationship Some 2
Oculopharyngeal spinal muscular atrophy Clinical course True Progressive Inferred relationship Some 2
Bulbospinal neuronopathy Clinical course True Progressive Inferred relationship Some 2
Spinal muscular atrophy with progressive myoclonic epilepsy (disorder) Clinical course True Progressive Inferred relationship Some 2
Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene. Clinical course True Progressive Inferred relationship Some 4
Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994. Clinical course True Progressive Inferred relationship Some 5
A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordosis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated. Clinical course True Progressive Inferred relationship Some 3
X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males. Clinical course True Progressive Inferred relationship Some 3
A rare genetic neuromuscular disease characterized by early onset muscular weakness with predominant proximal lower limb involvement. The disorder is static or only mildly progressive. The severity of manifestations ranges from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. Clinical course True Progressive Inferred relationship Some 2
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. Clinical course True Progressive Inferred relationship Some 5
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs. Clinical course True Progressive Inferred relationship Some 6
A rare genetic neurodegenerative disease with characteristics of childhood-onset severe developmental delay with regression, poor motor development, speech impairment and hypotonia due to CLCN6 mutations. Most of the patients have vision abnormalities, respiratory system abnormalities (including chronic respiratory insufficiency and tracheostomy that may lead to ventilator dependency) and feeding difficulties (percutaneous endoscopic gastronomy). Skin abnormalities including hyperhidrosis can be present. Clinical course True Progressive Inferred relationship Some 2
Progressive external ophthalmoplegia of left eye (disorder) Clinical course True Progressive Inferred relationship Some 1
Right progressive external ophthalmoplegia Clinical course True Progressive Inferred relationship Some 1
Posterior cord syndrome due to Friedreich ataxia (disorder) Clinical course True Progressive Inferred relationship Some 2
A rare interstitial lung disease characterized by early-onset, severe, progressive lung disease manifesting by respiratory distress, neurological symptoms including axial hypotonia, developmental delay, irritability, dystonia, poor visual contact and seizures, and variable multisystemic involvement including malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia and liver dysfunction. Kidney dysfunction, cardiac involvement including cardiomegaly and cardiac hypertrophy, decreased vision and strabismus have also been reported. Lung fibrosis may cause death in infancy from respiratory failure. Clinical course True Progressive Inferred relationship Some 4
A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years. Intermediate COL6-RD is caused by heterozygous or biallelic pathogenic variants (PVs) in the genes coding for the alpha chains of the extracellular matrix protein collagen VI (COL6A1, COL6A2, and COL6A3). Clinical course True Progressive Inferred relationship Some 2
Concato's disease (disorder) Clinical course True Progressive Inferred relationship Some 4

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