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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
Benign scapuloperoneal muscular dystrophy (disorder) Clinical course True Progressive Inferred relationship Some 2
Severe scapuloperoneal muscular dystrophy with cardiomyopathy Clinical course True Progressive Inferred relationship Some 3
Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. Clinical course False Progressive Inferred relationship Some 5
Benign congenital muscular dystrophy with finger flexion contractures Clinical course True Progressive Inferred relationship Some 2
Distal muscular dystrophy Clinical course True Progressive Inferred relationship Some 2
Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported. Clinical course True Progressive Inferred relationship Some 6
A form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy. Clinical course True Progressive Inferred relationship Some 2
A primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing. Clinical course True Progressive Inferred relationship Some 3
A rare, genetic, congenital muscular dystrophy due to dystroglycanopathy characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed. Clinical course True Progressive Inferred relationship Some 2
A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscle weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies. Clinical course True Progressive Inferred relationship Some 3
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported. Clinical course True Progressive Inferred relationship Some 2
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuro-psychomotor development is usually normal. Clinical course True Progressive Inferred relationship Some 2
Cranio-cervical dystonia with laryngeal and upper-limb involvement is a rare genetic, isolated dystonia characterized by a variable combination of cervical dystonia with tremor, blepharospasm, oromandibular and laryngeal dystonia. Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported. Clinical course True Progressive Inferred relationship Some 1
Transient infantile osteopetrosis Clinical course True Progressive Inferred relationship Some 3
dystrophie musculaire des ceintures autosomique dominante type 1B Clinical course False Progressive Inferred relationship Some 2
Leri-Weill dyschondrosteosis Clinical course False Progressive Inferred relationship Some 2
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed. Clinical course True Progressive Inferred relationship Some 2
A form of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement, and myoglobinuria and/or elevated creatine kinase serum levels. Clinical course True Progressive Inferred relationship Some 2
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive. Clinical course True Progressive Inferred relationship Some 3
Non-Alzheimer's progressive dysphasia Clinical course True Progressive Inferred relationship Some 3
Alzheimer's disease with progressive aphasia (disorder) Clinical course True Progressive Inferred relationship Some 4
Semantic dementia Clinical course True Progressive Inferred relationship Some 3
Myopic macular degeneration of bilateral eyes (disorder) Clinical course True Progressive Inferred relationship Some 3
Myopic macular degeneration of right eye (disorder) Clinical course True Progressive Inferred relationship Some 2
Myopic macular degeneration of left eye Clinical course True Progressive Inferred relationship Some 2
Progressive aphasia Clinical course True Progressive Inferred relationship Some 3
Progressive iris atrophy Clinical course True Progressive Inferred relationship Some 3
Progressive cone dystrophy (without rod involvement) Clinical course True Progressive Inferred relationship Some 2
Multiple progressive haemangiomata Clinical course True Progressive Inferred relationship Some 3
Secondary pigmentary retinal degeneration Clinical course True Progressive Inferred relationship Some 2
Degenerative progressive high myopia Clinical course True Progressive Inferred relationship Some 2
Myopic macular degeneration Clinical course True Progressive Inferred relationship Some 2
Degenerative progressive high myopia of right eye Clinical course True Progressive Inferred relationship Some 2
Degenerative progressive high myopia of left eye (disorder) Clinical course True Progressive Inferred relationship Some 2
Degenerative progressive high myopia of bilateral eyes (disorder) Clinical course True Progressive Inferred relationship Some 3
Post poliomyelitis syndrome Clinical course True Progressive Inferred relationship Some 3
Progression of fetal right ventricular outflow tract obstruction Clinical course True Progressive Inferred relationship Some 2
Progression of fetal left ventricular outflow tract obstruction (disorder) Clinical course True Progressive Inferred relationship Some 2
Severe autosomal recessive intrahepatic cholestasis described in aboriginal children from northwestern Quebec. First manifestation as neonatal jaundice, progresses to periportal fibrosis and cirrhosis. Clinical course True Progressive Inferred relationship Some 4
Progressive external ophthalmoplegia Clinical course True Progressive Inferred relationship Some 3
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. Clinical course True Progressive Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial. Clinical course True Progressive Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. Clinical course True Progressive Inferred relationship Some 4
A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. Clinical course True Progressive Inferred relationship Some 4
A rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases. Clinical course True Progressive Inferred relationship Some 2
Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia, characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved. Clinical course True Progressive Inferred relationship Some 3
Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia, characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge. Clinical course True Progressive Inferred relationship Some 3
A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions. Clinical course True Progressive Inferred relationship Some 5
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. Clinical course True Progressive Inferred relationship Some 5
Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported. Clinical course True Progressive Inferred relationship Some 5
Alexander disease Clinical course True Progressive Inferred relationship Some 4
A rare neuronal ceroid lipofuscinosis disorder characterized by juvenile-onset of progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and, occasionally the retina, upon postmortem. Clinical course True Progressive Inferred relationship Some 4
A group of rare, genetic, neurodegenerative diseases characterized by an infancy- to childhood-onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed. Clinical course True Progressive Inferred relationship Some 4
A rare genetic isolated inherited retinal disorder characterised by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, colour vision alteration, followed by night blindness and loss of peripheral visual field. Clinical course True Progressive Inferred relationship Some 2
Progressive muscular atrophy Clinical course True Progressive Inferred relationship Some 2
Progressive multiple sclerosis Clinical course True Progressive Inferred relationship Some 1
Secondary progressive multiple sclerosis (disorder) Clinical course True Progressive Inferred relationship Some 3
Primary progressive multiple sclerosis (disorder) Clinical course True Progressive Inferred relationship Some 3
Progressive relapsing multiple sclerosis (disorder) Clinical course True Progressive Inferred relationship Some 3
Progressive focal cortical atrophy Clinical course True Progressive Inferred relationship Some 1
Benign monomelic amyotrophy Clinical course True Progressive Inferred relationship Some 3
A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse symmetric ophthalmoparesis. Additional signs may include skeletal muscle weakness, cataracts, hearing loss, sensory axonal neuropathy, ataxia, parkinsonism, cardiomyopathy, hypogonadism and depression. It is usually less severe than autosomal recessive form. Clinical course True Progressive Inferred relationship Some 1
A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse, symmetric ophthalmoparesis. Additional signs may include generalized skeletal muscle weakness, muscle atrophy, sensory axonal neuropathy, ataxia, cardiomyopathy, and psychiatric symptoms. It is usually more severe than autosomal dominant form. Clinical course True Progressive Inferred relationship Some 1
A rare X-linked cerebellar ataxia, characterized by a combination of upper and lower motor neuron signs, with an age of onset in the first or second decade, slow progression, and normal intelligence. Typical features of cerebellar dysfunction include gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, nystagmus, and hyperreflexia. Further phenotypic features are pes cavus, scoliosis, muscle atrophy, and peripheral sensory and motor nerve abnormalities. Clinical course True Progressive Inferred relationship Some 1
Stapes fixation (stapediovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease). Clinical course True Progressive Inferred relationship Some 2
Hereditary cerebral amyloid angiopathy, Dutch type Clinical course True Progressive Inferred relationship Some 1
A rare genetic cerebral small vessel disease characterized by amyloid deposition in the cerebral blood vessels leading to predominantly hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. Clinical course True Progressive Inferred relationship Some 2
Hereditary cerebral amyloid angiopathy, Icelandic type Clinical course True Progressive Inferred relationship Some 2
Progressive pigmentary dermatosis of Schamberg Clinical course True Progressive Inferred relationship Some 3
A rare neurodegenerative disease characterized by extrapyramidal symptoms (rigidity, tremor, bradykinesia) and dementia, typically beginning in the fifth or sixth decade of life and progressing to a vegetative state with pelvicrural flexion contractures within few years. Oculomotor signs, olfactory dysfunction, and autonomic disturbances may also be observed. Neuropathological hallmarks are frontotemporally accentuated cerebral atrophy, as well as neurofibrillary tangles and neuronal loss in a characteristic distribution in cortical and subcortical regions. The disease is endemic to the Pacific Island of Guam. Clinical course True Progressive Inferred relationship Some 3
Keratosis lichenoides chronica (disorder) Clinical course True Progressive Inferred relationship Some 2
Neuronal ceroid lipofuscinosis 8 Clinical course True Progressive Inferred relationship Some 2
Van Bogaert's sclerosing leukoencephalitis Clinical course True Progressive Inferred relationship Some 4
Granulomatosis disciformis et progressiva Clinical course True Progressive Inferred relationship Some 3
Chronic progressive coccidioidal pneumonia (disorder) Clinical course True Progressive Inferred relationship Some 2
Rett syndrome Clinical course True Progressive Inferred relationship Some 2
Cirrhosis of liver due to and following cardiac procedure (disorder) Clinical course True Progressive Inferred relationship Some 4
A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome. Clinical course True Progressive Inferred relationship Some 2
Bilateral progressive external ophthalmoplegia Clinical course True Progressive Inferred relationship Some 1
Progressive cribriform and zosteriform hyperpigmentation (disorder) Clinical course True Progressive Inferred relationship Some 2
Progressive peripheral pterygium of right eye Clinical course True Progressive Inferred relationship Some 3
Progressive peripheral pterygium of left eye (disorder) Clinical course True Progressive Inferred relationship Some 3
Progressive peripheral pterygium of bilateral eyes (disorder) Clinical course True Progressive Inferred relationship Some 5
Peripheral pterygium, progressive Clinical course True Progressive Inferred relationship Some 2
Necrobiotic xanthogranuloma (disorder) Clinical course True Progressive Inferred relationship Some 2
Necrobiotic xanthogranuloma with paraproteinemia (disorder) Clinical course True Progressive Inferred relationship Some 3
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Clinical course False Progressive Inferred relationship Some 1
Autosomal recessive Robinow syndrome Clinical course False Progressive Inferred relationship Some 1
Congenital muscular dystrophy type 1C is caused by mutations in the gene encoding fukutin-related protein (FKRP) and is a rare autosomal recessive disorder characterized by severe muscular dystrophy presenting at birth or in the first few weeks of life. Clinical course True Progressive Inferred relationship Some 2
Bilateral Madelung deformity (disorder) Clinical course False Progressive Inferred relationship Some 7
Congenital muscular dystrophy type 1D large gene mutation (MDC1D) is an autosomal recessive congenital muscular dystrophy with intellectual disabilities and structural brain abnormalities. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan, collectively known as dystroglycanopathies. Clinical features include severe intellectual disability, hypotonia, developmental delay, contractures, and muscle degeneration. Clinical course True Progressive Inferred relationship Some 2
Progressive avascular necrosis of bilateral lunate bones (disorder) Clinical course True Progressive Inferred relationship Some 3
Liver cirrhosis due to classical cystic fibrosis Clinical course True Progressive Inferred relationship Some 3
Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder) Clinical course True Progressive Inferred relationship Some 2
Mesomelic dysplasia of upper limb (disorder) Clinical course False Progressive Inferred relationship Some 2
Progressive nodular fibrosis of skin Clinical course True Progressive Inferred relationship Some 2
Porokeratosis of Mibelli Clinical course True Progressive Inferred relationship Some 3
Giant porokeratosis Clinical course True Progressive Inferred relationship Some 3
A rare genetic disease characterized by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991. Clinical course True Progressive Inferred relationship Some 4
épilepsie progressive partielle chronique continue de l'enfance Clinical course False Progressive Inferred relationship Some 2
épilepsie partielle continue progressive chronique Clinical course False Progressive Inferred relationship Some 1

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