1292992004: Component annotation with string value reference set (foundation metadata concept)

SNOMED CT Concept\SNOMED CT Model Component\Foundation metadata concept (foundation metadata concept)\Reference set\Component annotation with string value reference set (foundation metadata concept)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2023. Module: SNOMED CT model component module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

5276957018 Component annotation with string value reference set (foundation metadata concept) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT model component module (core metadata concept)

5276958011 Component annotation with string value reference set en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT model component module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Component annotation with string value reference set (foundation metadata concept)	Is a	Reference set	true	Inferred relationship	Some

Members	languageDialectCode	typeId	value
A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare isolated diffuse palmoplantar keratoderma characterized by diffuse, homogeneous, mild to thick, brown-to-yellowish palmoplantar hyperkeratosis (sometimes spreading over the dorsal aspect of fingers). Skin biopsy shows non-epidermolytic changes. There are no changes in hair, teeth or nails, and no syndromic involvement of other organs.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare genetic neuromuscular disease characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A form of focal dystonia characterized by cervical, laryngeal and hand-forearm dystonia.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic, isolated, focal palmoplantar keratoderma disease characterized by focal thickening of the skin of the soles, and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and, occasionally, subtle oral leukokeratosis or plantar hyperhidrosis.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (recessive forms of diazoxide-resistant hyperinsulinism).	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A form of congenital diazoxide-sensitive diffuse hyperinsulinism due to ABCC8 variants and characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually have a good clinical response to diazoxide. The autosomal dominant hyperinsulinism usually has a milder phenotype when compared to that resulting from recessive potassium (K-ATP) channel mutations.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual disability frequently co-occurring with behavioral problems (including anxiety, attention deficit hyperactivity disorder and autistic spectrum disorder), variable somatic overgrowth, macrocephaly and distinctive dysmorphic facial features including high hairline, frontal bossing, downslanting palpebral fissures, telecanthus, hypertelorism, deep-set eyes and full cheeks. Pierre Robin sequence with submucous cleft has also been reported. Additional clinical features include skeletal abnormalities, hypotonia, cardiac anomalies, hypothyroidism, cryptorchidism, visual disturbances and ectodermal problems such as sparse hair, thin nails, and abnormal dentition.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare hereditary motor and sensory neuropathy characterised by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare hereditary motor and sensory neuropathy characterised by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also be associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec).	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterized by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paresthesia in toes, heels and ankles.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare genetic inflammatory corneal disorder characterized by anterior stromal corneal opacification and vascularization of the peripheral cornea with potential central progression and subsequent reduction in visual acuity. Variable features include abnormalities of the iris, such as stromal defects and ectropion uveae, as well as foveal hypoplasia.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID).	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
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.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare subtype of autosomal dominant limb-girdle muscular dystrophy, with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by onset of slowly progressive proximal lower limb weakness and exercise intolerance in the first decade of life, followed by weakness of neck flexor, shoulder, and distal leg muscles. Facial muscles become involved still later in the disease course. Additional manifestations are restrictive pulmonary function and short stature. Laboratory studies reveal lactic acidemia and increased serum creatine kinase.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion, and cleft palate.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic, vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the OPA3 gene (19q13.32).	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare form of autosomal dominant optic atrophy (ADOA) characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare neuro-ophthalmological disease which is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss with an onset during the first decade of life, associated with optic disc pallor, visual acuity loss, visual field deficits and color vision defects.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare neuro-ophthalmological disease associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia or multiple-sclerosis like illness.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
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).	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic, renal tubular disease characterized by progressive outgrowths of fluid-filled cysts from the renal epithelium, which can manifest with hematuria, urinary tract infections, hypertension, and abdominal or flank pain. The slowly progressive loss of kidney function may evolve to end stage kidney disease (ESKD).	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare genetic syndrome with limb malformations as a major feature characterized by preaxial polydactyly of the hands and feet with variable phenotypic expressivity in combination with hypertrichosis extending from the posterior hairline to the middle of the back. Reported limb malformations include triphalangeal thumbs, duplicated thumbs, preaxial extra ray, and syndactyly between digits I and II in the hands, and large or duplicated hallux and syndactyly between toes I and II in the feet.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic, developmental defect during embryogenesis disorder characterized by abnormal forward projection of the mandible beyond the standard relation to the cranial base, with lower incisors often overlapping the upper incisors, that is inherited in an autosomal dominant manner. Association with mildly everted lower eyelids, flat malar area, thickened lower lip and craniosynostosis has been reported.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
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.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare form of pterygium, which develops in early adulthood, characterised by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic, haematologic disease characterised by increased levels of serum haemoglobin, haematocrit and erythrocyte mass, associated with elevated or inappropriately normal erythropoietin serum levels, occurring in various members of a family and with autosomal dominant inheritance.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic, autosomal dominant spastic ataxia disorder characterized by lower-limb spasticity and ataxia in the form of head jerks, ocular movement abnormalities, dysarthria, dysphagia and gait disturbances.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
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.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
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.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
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.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
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.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
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.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
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.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
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.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
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.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
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.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
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.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
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.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
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.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
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.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
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.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
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.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
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.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
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.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
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.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
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.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma, and potential postpartum hemorrhage, among others.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic renal tubular disease characterized by tubular damage and interstitial fibrosis in absence of glomerular lesions and clinically manifesting with chronic kidney disease (CKD) and slow progression to end-stage kidney disease (ESKD).	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by childhood to adult onset of slowly progressive, sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor, or urogenital dysfunction. Fasciculations and proximal involvement may be seen in some cases. Patients usually remain ambulatory.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Patients generally present in infancy with recurrent infections, failure to thrive, fever, diarrhea, and dermatitis.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare disorder characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non-consanguineous parents.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by motor-predominant axonal polyneuropathy due to a defect in copper metabolism. Patients become symptomatic in infancy or childhood with subtle motor delay or regression, manifesting with progressive weakness, muscle wasting, and absent reflexes in the lower and upper extremities. In addition, vibratory sensation is mildly diminished. Involvement of the face with weakness and fasciculation of facial muscles has also been described.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare disorder characterized by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliosis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
An extremely rare, autosomal recessive, hereditary cerebellar ataxia disorder characterized by early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria, and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition, and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, hereditary, cerebellar ataxia disorder characterized by 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.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare autosomal recessive cerebellar ataxia characterized by early onset of non- or slowly progressive cerebellar signs and symptoms including truncal and gait ataxia, dysarthria, dysmetria, dysdiadochokinesis, tremor, and nystagmus. Delayed psychomotor development and intellectual disability are variable. Additional reported features are spasticity, hypotonia, cataracts, and sensorineural hearing loss, among others. Brain imaging shows cerebellar atrophy.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet

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Reference Sets

Reference set descriptor

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Id	Description	Lang	Type	Status	Case?	Module
5276957018	Component annotation with string value reference set (foundation metadata concept)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)
5276958011	Component annotation with string value reference set	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)