FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
épilepsie partielle continue progressive chronique Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary biliary cholangitis Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 5
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 4
Progressive cerebellar ataxia with hypogonadism Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Progressive familial intrahepatic cholestasis type 2 Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Progressive intrahepatic cholestasis Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Progressive familial intrahepatic cholestasis type 1 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant progressive external ophthalmoplegia type 4 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant progressive external ophthalmoplegia type 1 Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant progressive external ophthalmoplegia type 2 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant progressive external ophthalmoplegia type 5 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant progressive external ophthalmoplegia type 3 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive Emery-Dreifuss muscular dystrophy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked Emery-Dreifuss muscular dystrophy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Atypical progressive supranuclear palsy syndrome (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Progressive supranuclear palsy corticobasal syndrome (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Progressive supranuclear palsy parkinsonism syndrome (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 4
Progressive supranuclear palsy progressive non fluent aphasia Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Progressive post hemorrhagic ventricular dilatation Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Diaphyseal dysplasia (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
2-methyl-3-hydroxybutyric aciduria Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 1
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 4
Childhood-onset basal ganglia degeneration syndrome Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare complex hereditary spastic paraplegia characterised by neonatal to infantile onset of progressive spasticity in the lower limbs, hyperreflexia, tip-toe walking, pes equinus, and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients, and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability, language impairment, and moderate upper limb involvement. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare genetic skeletal muscle disease characterized by neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. Progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities have been reported in addition. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 1
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare, genetic retinal disorder characterised by bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling, and mild hypermetropic astigmatism may be associated. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Adenylosuccinate synthetase-like 1-related distal myopathy (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
POGLUT1-related limb girdle muscular dystrophy R21 Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 5
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic cerebral small vessel disease characterized by recurrent ischemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar, and cerebellar symptoms, among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leukoencephalopathy of the cerebral hemispheres. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 1
Myotonic dystrophy (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital myotonic dystrophy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
BVES-related limb girdle muscular dystrophy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
LIMS2-related limb girdle muscular dystrophy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Primary hyperplasia of mandibular condyle Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Progressive familial intrahepatic cholestasis type 3 Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 1
Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Integral membrane protein 2B related amyloidosis (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 4
Progressive nodular histiocytosis Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 74 Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 1
Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant hereditary spastic paraplegia Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked hereditary spastic paraplegia (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive hereditary spastic paraplegia Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Pure hereditary spastic paraplegia Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Complicated hereditary spastic paraplegia (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spastic paraplegia type 17 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 5
Allan-Herndon-Dudley syndrome Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 7
Infantile ascending hereditary spastic paralysis (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 58 Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 70 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
A pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant spastic paraplegia type 42 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 48 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
A pure form of hereditary spastic paraplegia characterised by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked spastic paraplegia type 34 Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 5A Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spastic paraplegia type 12 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant spastic paraplegia type 19 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 28 Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare, pure or complex form of hereditary spastic paraplegia characterised by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Spastic paraplegia, facial cutaneous lesion syndrome Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 15 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 21 Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 43 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
A pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraparesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 45 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 67 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 59 Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Hereditary spastic paraplegia Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary sensory and autonomic neuropathy with spastic paraplegia Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal recessive spastic paraplegia type 39 Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked spastic paraplegia type 2 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal dominant spastic paraplegia type 36 Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spastic paraplegia type 4 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterised by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 53 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 54 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 32 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 26 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 23 Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 64 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 63 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3

Start Previous Page 5 of 8 Next End

This concept is not in any reference sets

Back to Start