FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

737227004: Autosomal dominant hereditary spastic paraplegia (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3527211011 Autosomal dominant hereditary spastic paraplegia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3527212016 Autosomal dominant hereditary spastic paraplegia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6006771000241110 paraplégie spastique héréditaire autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


26 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant hereditary spastic paraplegia Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
Autosomal dominant hereditary spastic paraplegia Is a Hereditary spastic paraplegia true Inferred relationship Some
Autosomal dominant hereditary spastic paraplegia Finding site Body structure that includes the hip, thigh, leg, ankle and foot. false Inferred relationship Some 1
Autosomal dominant hereditary spastic paraplegia Associated morphology dégénérescence false Inferred relationship Some 2
Autosomal dominant hereditary spastic paraplegia Occurrence Congenital false Inferred relationship Some 2
Autosomal dominant hereditary spastic paraplegia Finding site Spinal cord structure false Inferred relationship Some 2
Autosomal dominant hereditary spastic paraplegia Associated morphology Degenerative abnormality false Inferred relationship Some 2
Autosomal dominant hereditary spastic paraplegia Clinical course Progressive true Inferred relationship Some 2
Autosomal dominant hereditary spastic paraplegia Finding site Spinal cord structure true Inferred relationship Some 3
Autosomal dominant hereditary spastic paraplegia Associated morphology Degenerative abnormality true Inferred relationship Some 3
Autosomal dominant hereditary spastic paraplegia Interprets mouvement false Inferred relationship Some 4
Autosomal dominant hereditary spastic paraplegia Finding site Structure of right lower limb (body structure) true Inferred relationship Some 5
Autosomal dominant hereditary spastic paraplegia Finding site Structure of left lower limb (body structure) true Inferred relationship Some 6
Autosomal dominant hereditary spastic paraplegia Interprets Movement observable true Inferred relationship Some 1
Autosomal dominant hereditary spastic paraplegia Has interpretation Absent true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. Is a True Autosomal dominant hereditary spastic paraplegia Inferred relationship Some
A rare, hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterized by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterized by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa have also been reported. Is a True Autosomal dominant hereditary spastic paraplegia Inferred relationship Some
A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. Is a True Autosomal dominant hereditary spastic paraplegia Inferred relationship Some
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. Is a True Autosomal dominant hereditary spastic paraplegia Inferred relationship Some
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. Is a True Autosomal dominant hereditary spastic paraplegia Inferred relationship Some
A pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging. Is a True Autosomal dominant hereditary spastic paraplegia Inferred relationship Some
A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus. Is a True Autosomal dominant hereditary spastic paraplegia Inferred relationship Some
A pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy. Is a True Autosomal dominant hereditary spastic paraplegia Inferred relationship Some
A complex hereditary spastic paraplegia characterised by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy is typical. Is a False Autosomal dominant hereditary spastic paraplegia Inferred relationship Some
A rare, pure or complex form of hereditary spastic paraplegia, with variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, scoliosis, sphincter disturbances and/or urinary bladder hyperactivity. Rare additional associated manifestations may include mild intellectual disability, axonal motor neuropathy, and seizures. Is a True Autosomal dominant hereditary spastic paraplegia Inferred relationship Some
A rare, pure or complex form of hereditary spastic paraplegia characterized by progressive spastic paraplegia with pyramidal signs in the upper and lower limbs, and decreased vibration sense. Is a True Autosomal dominant hereditary spastic paraplegia Inferred relationship Some
A complex hereditary spastic paraplegia characterised by mild to severe lower limb spasticity, hyperreflexia, extensor plantar responses, impaired vibration sensation, pes cavus, and significant wasting and weakness of the small hand muscles. Temporal lobe epilepsy and cognitive dysfunction have been also reported. Is a False Autosomal dominant hereditary spastic paraplegia Inferred relationship Some
A rare, pure or complex form of hereditary spastic paraplegia characterized by early adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities. It may be associated with complicating signs, such as sensory neuropathy, ataxia (i.e. mild dysmetria, uncoordinated eye movement) and mild dysphagia. Is a True Autosomal dominant hereditary spastic paraplegia Inferred relationship Some
A pure form of hereditary spastic paraplegia characterized 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. Is a True Autosomal dominant hereditary spastic paraplegia Inferred relationship Some
A complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992. Is a False Autosomal dominant hereditary spastic paraplegia Inferred relationship Some
A complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. Is a False Autosomal dominant hereditary spastic paraplegia Inferred relationship Some
Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported. Is a False Autosomal dominant hereditary spastic paraplegia Inferred relationship Some
Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983. Is a False Autosomal dominant hereditary spastic paraplegia Inferred relationship Some
A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. Is a False Autosomal dominant hereditary spastic paraplegia Inferred relationship Some
Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. Is a False Autosomal dominant hereditary spastic paraplegia Inferred relationship Some
A rare complex hereditary spastic paraplegia characterized by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastroesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus, and occasionally short stature, among others. Is a False Autosomal dominant hereditary spastic paraplegia Inferred relationship Some
A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal. Is a True Autosomal dominant hereditary spastic paraplegia Inferred relationship Some
A pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies. Is a True Autosomal dominant hereditary spastic paraplegia Inferred relationship Some
Autosomal dominant complex hereditary spastic paraplegia (disorder) Is a True Autosomal dominant hereditary spastic paraplegia Inferred relationship Some

This concept is not in any reference sets

Back to Start