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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
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 6
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 5
Osteochondrodysplasia with osteopetrosis (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 4
Osteopetrosis - intermediate type Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteopetrosis with renal tubular acidosis Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Atelosteogenesis/diastrophic dysplasia Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 4
Scapuloperoneal muscular dystrophy (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare genetic neurological disorder characterised by early-onset progressive ataxia associated with myoclonic seizures, generalised tonic-clonic seizures (which are often sleep-related) and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 1
Progressive myoclonic epilepsy type 3 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive limb girdle muscular dystrophy type 2T (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital muscular dystrophy due to LMNA mutation Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive limb girdle muscular dystrophy type 2E (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Atelosteogenesis type 1 Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Atelosteogenesis type 3 (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Epidermolysis bullosa simplex with muscular dystrophy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Spondyloepimetaphyseal dysplasia with multiple dislocations Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Early onset myopathy with fatal cardiomyopathy (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Madelung's deformity Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 4
Hereditary progressive muscular dystrophy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
CHST3-related skeletal dysplasia Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Craniometadiaphyseal dysplasia Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Facioscapulohumeral muscular dystrophy (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital muscular dystrophy Paradas type Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Charcot-Marie-Tooth disease type 2P (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Osteomesopycnosis Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple epiphyseal dysplasia Lowry type Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Mesomelic dysplasia Kantaputra type (disorder) Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Rhizomelic syndrome Urbach type Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Juvenile onset Huntington's disease Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant Charcot-Marie-Tooth disease type 2O Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Benign autosomal dominant osteopetrosis Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Lower motor neuron syndrome with late-adult onset (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 4
Reinhardt Pfeiffer mesomelic dysplasia Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Coxoauricular syndrome (disorder) Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 4
Manifesting female carrier of X-linked muscular dystrophy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteopetrosis (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Hereditary myopathy limited to females Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Finnish upper limb onset distal myopathy (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal nebulin myopathy (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare fatal inborn error of metabolism disorder with characteristics of respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Reunion-Indiana Amish type muscular dystrophy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple epiphyseal dysplasia Beighton type (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) related overgrowth syndrome disease with characteristics of segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones and progresses in a distal to proximal patten. Congenital overgrowth is typically associated. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Ullrich congenital muscular dystrophy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant limb-girdle muscular dystrophy type 1H Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Multiple epiphyseal dysplasia Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant muscular dystrophy with gene located at 5q31 Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare genetic neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy. There is evidence the disease may be caused by homozygous mutation in the CERS1 gene on chromosome 19p12. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 1
Muscular dystrophy with predominantly proximal limb girdle distribution Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked muscular dystrophy with limb girdle distribution Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked muscular dystrophy with abnormal dystrophin (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Intermediate X-linked muscular dystrophy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Larsen syndrome Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 5
Chondrodysplasia with joint dislocations gPAPP type (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked limb girdle muscular dystrophy with normal dystrophin Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Ji muscular dystrophy Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe autosomal recessive muscular dystrophy of childhood - North African type Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive muscular dystrophy with gene located at 15q Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 1
Langer mesomelic dysplasia syndrome Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant muscular dystrophy not predominantly limb girdle (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed. Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Western type of congenital muscular dystrophy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
dystrophie musculaire des ceintures autosomique dominante type 1C Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital muscular dystrophy with arthrogryposis multiplex congenita Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant limb girdle muscular dystrophy type 1D Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant limb girdle muscular dystrophy type 1E (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Eichsfeld type congenital muscular dystrophy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant limb girdle muscular dystrophy type 1F (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Hutterite type of muscular dystrophy (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital muscular dystrophy with intellectual disability (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant limb girdle muscular dystrophy type 1G Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Adult onset autosomal recessive muscular dystrophy with normal dystrophin Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital muscular hypertrophy-cerebral syndrome Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant muscular dystrophy with limb girdle distribution Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial dementia British type (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
KLHL9-related early-onset distal myopathy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 3
Late onset proximal muscular dystrophy with dysarthria Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple epiphyseal dysplasia with miniepiphyses (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Cleidorhizomelic syndrome (disorder) Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Muscular dystrophy not predominantly limb girdle in distribution Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked muscular dystrophy not predominantly limb girdle Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Mesomelic dysplasia Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Benign scapuloperoneal muscular dystrophy with cardiomyopathy Clinical course False Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteopetrosis hypogammaglobulinemia syndrome (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 5
Distal anoctaminopathy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive limb girdle muscular dystrophy type 2G (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Late onset Huntington's disease (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive muscular dystrophy not predominantly limb girdle Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive limb girdle muscular dystrophy type 2K (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Scapulohumeral muscular dystrophy (disorder) Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2
Benign scapuloperoneal muscular dystrophy Clinical course True Progressive Inferred relationship Existential restriction modifier (core metadata concept) 2

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