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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
380497019 Progressive en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
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 Behavior descriptors true Inferred relationship Existential restriction modifier (core metadata concept)
Progressive Is a Chronic (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare genetic neurological disorder characterised by early-onset progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalised tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels and relative preservation of cognitive function until late in the disease course. There is evidence the disease is caused by homozygous mutation in the GOSR2 gene on chromosome 17q21. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 1
Adult-onset autosomal recessive cerebellar ataxia (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Axial osteosclerosis Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 5
Laing early-onset distal myopathy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant spastic paraplegia type 8 Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Thoracic dysplasia and hydrocephalus syndrome (disorder) Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Endosteal hyperostoses (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal myopathy with anterior tibial onset Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare hereditary cerebellar ataxia disorder with characteristics of late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging. There is evidence the disease is caused by homozygous mutation in the SYT14 gene on chromosome 1q32. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Syndrome with characteristics of congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy and dysarthria. It is appears to be transmitted as an autosomal recessive trait. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 4
Dysplasia of head of femur Meyer type (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Oculopharyngeal muscular dystrophy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive limb girdle muscular dystrophy type 2D (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive limb girdle muscular dystrophy type 2A (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive limb girdle muscular dystrophy type 2P (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive limb girdle muscular dystrophy type 2J (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Huntington's chorea Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive limb girdle muscular dystrophy type 2Q (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive limb girdle muscular dystrophy type 2O (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive limb girdle muscular dystrophy type 2L Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
A form of limb-girdle muscular dystrophy characterised by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability). Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive limb girdle muscular dystrophy type 2M (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital muscular dystrophy with hyperlaxity (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 4
Pelvic muscular dystrophy Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare genetic motor neuron disease with characteristics of adult-onset of slowly progressive proximal muscular weakness with fasciculations, amyotrophy, cramps and absent/hypoactive reflexes without bulbar or pyramidal involvement. Caused by heterozygous mutation in the gene encoding vesicle-associated membrane protein-associated protein B (VAPB) on chromosome 20q13. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal muscular dystrophy with juvenile onset Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Dyschondrosteose - Nephritis Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Tibial muscular dystrophy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Alpha-B crystallin-related late-onset myopathy (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal myopathy Welander type (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Severe childhood autosomal recessive muscular dystrophy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
General paresis - neurosyphilis Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (for example decreased vibration sense), eye movement anomalies (such as nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy. There is evidence the disease is caused by compound heterozygous mutation in the TPP1 gene on chromosome 11p15. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive limb girdle muscular dystrophy type 2S (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Boomerang dysplasia Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
dystrophie musculaire des ceintures autosomique récessive type 2R Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Atelosteogenesis type 2 Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 4
Becker muscular dystrophy (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteosclerosis Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
ADan amyloidosis Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Nievergelt's syndrome Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Pseudodiastrophic dysplasia (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Muscular dystrophy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Akinetic-rigid form of Huntington's disease Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature homeobox related short stature (disorder) Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Hydrocalycosis Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Wolcott-Rallison dysplasia Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Lenz-Majewski hyperostosis syndrome (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Atelosteogenesis Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Mesomelic dysplasia Savarirayan type (disorder) Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple epiphyseal dysplasia due to collagen 9 anomaly (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Epiphyseal dysplasia (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare, genetic muscular dystrophy affecting female carriers and characterised by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Worth disease Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 4
Lethal Larsen-like syndrome (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
dystrophie musculaire des ceintures d'Erb Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare genetic muscular dystrophy disease with characteristics of the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging. Caused by mutation in the FHL1 gene. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modelling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 4
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Progressive avascular necrosis of lunate Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Muscular dystrophy-deafmutism syndrome Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital muscular dystrophy type 1A Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital hereditary muscular dystrophy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital muscular dystrophy type 1B Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive limb girdle muscular dystrophy type 2U Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Epiphyseal dysplasia, microcephalus, nystagmus syndrome Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Fukuyama congenital muscular dystrophy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Amyotrophic lateral sclerosis type 4 Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 6
Merosin deficient congenital muscular dystrophy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Walker-Warburg congenital muscular dystrophy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Muscle-eye-brain disease, congenital muscular dystrophy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal muscular dystrophy, Miyoshi type Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Multiple epiphyseal dysplasia type 4 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Steinert myotonic dystrophy syndrome Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Reunion Island Larsen-like syndrome Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 4
Multiple epiphyseal dysplasia type 1 Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Diastrophic dysplasia Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Emery-Dreifuss muscular dystrophy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple epiphyseal dysplasia type 5 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple dislocations with dysplasia (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
syndrome de dystrophie musculaire ménopausique Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Desbuquois syndrome Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Spondyloepimetaphysäre Dysplasie mit Überstreckbarkeit der Gelenke Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Larsen-like osseous dysplasia, short stature syndrome Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Multiple epiphyseal dysplasia tarda type IIIa Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Progressive systemic sclerosis (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal myopathy 2 Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Eiken syndrome Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
dystrophie musculaire oculaire Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Parana hard skin syndrome (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 1
Bethlem myopathy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Dementia paralytica juvenilis (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Duchenne muscular dystrophy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 6

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