900000000000490003: Description inactivation indicator attribute value reference set (foundation metadata concept)

SNOMED CT Concept\SNOMED CT Model Component\Foundation metadata concept (foundation metadata concept)\Reference set\Attribute value type\Description inactivation indicator reference set

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT model component module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Description inactivation indicator reference set	Is a	Attribute value type	true	Inferred relationship	Some

Members	valueId
A rare neurological mitochondrial DNA-related disorder characterised clinically by progressive paediatric-onset dystonia with variable degrees of severity.	Outdated component (foundation metadata concept)
A rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.	Outdated component (foundation metadata concept)
A rare neurometabolic disease characterised by infantile onset of rapidly progressive neurological deterioration typically precipitated by a febrile illness. Patients present with hypotonia, loss of previously acquired motor milestones and cognitive skills, ataxia, nystagmus, tremor, seizures, tetraparesis and respiratory failure, eventually resulting in a vegetative state. Imaging of the brain and spinal cord may show white matter abnormalities, cerebral atrophy, cerebellar oedema, and spinal myelopathy. Subacute development of extensive bullous skin lesions within weeks of onset of neurological symptoms has also been reported.	Outdated component (foundation metadata concept)
A rare neurometabolic disease characterized by infantile onset of rapidly progressive neurological deterioration typically precipitated by a febrile illness. Patients present with hypotonia, loss of previously acquired motor milestones and cognitive skills, ataxia, nystagmus, tremor, seizures, tetraparesis and respiratory failure, eventually resulting in a vegetative state. Imaging of the brain and spinal cord may show white matter abnormalities, cerebral atrophy, cerebellar edema, and spinal myelopathy. Subacute development of extensive bullous skin lesions within weeks of onset of neurological symptoms has also been reported.	Outdated component (foundation metadata concept)
A rare neurometabolic disease due to a lipoic acid biosynthesis defect with a highly variable phenotype. Typical characteristics are early-onset acute or subacute developmental delay or regression frequently associated with feeding difficulties. Clinical severity is variable and may range from mild cases which present a later onset with slow neurological deterioration and general improvement over time to severe cases with clinical signs since birth and leading to early death. Associated manifestations include hypotonia, vision loss, respiratory failure, seizures and intellectual disability. Brain magnetic resonance imaging frequently shows cavitating leucoencephalopathy with lesions in the periventricular/central white matter and parieto-occipital lobes.	Outdated component (foundation metadata concept)
A rare neurometabolic disease due to a lipoic acid biosynthesis defect with a highly variable phenotype. Typical characteristics are early-onset acute or subacute developmental delay or regression frequently associated with feeding difficulties. Clinical severity is variable and may range from mild cases which present a later onset with slow neurological deterioration and general improvement over time to severe cases with clinical signs since birth and leading to early death. Associated manifestations include hypotonia, vision loss, respiratory failure, seizures and intellectual disability. Brain magnetic resonance imaging frequently shows cavitating leukoencephalopathy with lesions in the periventricular/central white matter and parieto-occipital lobes.	Outdated component (foundation metadata concept)
A rare neurometabolic disease with characteristics of infantile onset of repeated episodes of developmental regression and neurodegeneration often triggered by febrile illnesses. Patients present with lethargy, hypotonia, irritability, gait ataxia, loss of speech, movement disorder, seizures, ophthalmoplegia and hearing loss. Brain imaging shows generalised cerebral atrophy and bilateral basal ganglia abnormalities. Extensive skin lesions, cardiomyopathy and pancytopenia have been reported in association. The condition is fatal in the first years of life.	Outdated component (foundation metadata concept)
A rare neurometabolic disease with characteristics of infantile onset of repeated episodes of developmental regression and neurodegeneration often triggered by febrile illnesses. Patients present with lethargy, hypotonia, irritability, gait ataxia, loss of speech, movement disorder, seizures, ophthalmoplegia and hearing loss. Brain imaging shows generalized cerebral atrophy and bilateral basal ganglia abnormalities. Extensive skin lesions, cardiomyopathy and pancytopenia have been reported in association. The condition is fatal in the first years of life.	Outdated component (foundation metadata concept)
A rare neurometabolic disorder with features of seizures, progressive encephalopathy and lens dislocation. The prevalence is unknown but is very rare. Symptoms usually occur within the first week after birth with feeding difficulties, vomiting and seizures which are difficult to control. The majority of patients exhibit facial dysmorphism. The course is progressive, with spasticity, severe intellectual deficit, and microcephaly seen in survivors. Lens dislocation usually occurs late in infancy but has been observed as early as two months of age. A late onset form with a milder phenotype has also been described. Caused by a mutation in the SUOX gene (12q13.13). The disease follows an autosomal recessive pattern of inheritance.	Outdated component (foundation metadata concept)
A rare neurometabolic disorder with main features described as childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa and that may be associated with parkinsonism at an older age. Inherited in an autosomal dominant manner, but due to gender-based incomplete penetrance, not everyone with a mutation will display the disease phenotype.	Outdated component (foundation metadata concept)
A rare non-dystrophic myopathy characterised by generalised myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anaesthesia.	Outdated component (foundation metadata concept)
A rare non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.	Outdated component (foundation metadata concept)
A rare non-inflammatory thrombotic vasculopathy predominantly affecting women in young adulthood. Livedo racemosa is a persistent net-like violaceous-cyanotic, mottled discoloration of the skin that is exacerbated by cold or pregnancy. Neurological manifestations include recurrent transient ischemic attacks and infarcts. While about 50% of cases are idiopathic, the disease can be associated with autoimmune diseases like systemic lupus erythematosus and antiphospholipid syndrome. Genetic factors may play a role in the pathogenesis. Loss-of-function mutations in cat eye syndrome chromosome region candidate 1 CECR1 (22q11.2) encoding adenosine deaminase 2 have been found. Most cases are sporadic but some familial cases with an autosomal dominant inheritance have been reported.	Outdated component (foundation metadata concept)
A rare non-inflammatory thrombotic vasculopathy predominantly affecting women in young adulthood. Livedo racemosa is a persistent net-like violaceous-cyanotic, mottled discolouration of the skin that is exacerbated by cold or pregnancy. Neurological manifestations include recurrent transient ischaemic attacks and infarcts. While about 50% of cases are idiopathic, the disease can be associated with autoimmune diseases like systemic lupus erythematosus and antiphospholipid syndrome. Genetic factors may play a role in the pathogenesis. Loss-of-function mutations in cat eye syndrome chromosome region candidate 1 CECR1 (22q11.2) encoding adenosine deaminase 2 have been found. Most cases are sporadic but some familial cases with an autosomal dominant inheritance have been reported.	Outdated component (foundation metadata concept)
A rare non-paraneoplastic limbic encephalitis with characteristics of severe but potentially treatable autoimmune encephalitis associated with autoantibodies against neurexin-3alpha. Patients present with prodromal fever, headache, or gastrointestinal symptoms, followed by rapid progression to confusion, seizures, and decreased level of consciousness. Mild orofacial dyskinesia, as well as life-threatening complications like central hypoventilation requiring respiratory support may develop in some patients.	Outdated component (foundation metadata concept)
A rare non-syndromic limb malformation characterised by a hand or foot with more than five digits that has a recognisable anterior/posterior axis of symmetry, either with a hallux or thumb-like structure or an interdigital space in the middle. The most lateral digits on each side typically resemble fifth fingers or toes. The malformation may be unilateral or bilateral and may occur in isolation or in association with other congenital anomalies.	Outdated component (foundation metadata concept)
A rare non-syndromic limb malformation characterized by a hand or foot with more than five digits that has a recognizable anterior/posterior axis of symmetry, either with a hallux or thumb-like structure or an interdigital space in the middle. The most lateral digits on each side typically resemble fifth fingers or toes. The malformation may be unilateral or bilateral and may occur in isolation or in association with other congenital anomalies.	Outdated component (foundation metadata concept)
A rare non-syndromic uterovaginal malformation characterised by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhoea, unilateral obstruction and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent.	Outdated component (foundation metadata concept)
A rare non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhea, unilateral obstruction and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent.	Outdated component (foundation metadata concept)
A rare ophthalmic condition with characteristics of the formation of excessive scar tissue between the conjunctiva/Tenon capsule and the sclera at the surgical site following glaucoma filtration surgery. Scarring can occur months or years after surgery, resulting in treatment failure with poor postoperative control of intraocular pressure and potentially loss of vision.	Outdated component (foundation metadata concept)
A rare ophthalmic disorder characterised by visual abnormalities (such as myopia, strabismus or amblyopia) due to the presence of myelinated retinal nerve fibres, which appear as whitish patches with feathery edges at the level of the retinal nerve fibre layer and may be continuous or discontinuous with the optic nerve head. The defect can be unilateral or bilateral.	Outdated component (foundation metadata concept)
A rare ophthalmic disorder characterized by visual abnormalities (such as myopia, strabismus or amblyopia) due to the presence of myelinated retinal nerve fibers, which appear as whitish patches with feathery edges at the level of the retinal nerve fiber layer and may be continuous or discontinuous with the optic nerve head. The defect can be unilateral or bilateral.	Outdated component (foundation metadata concept)
A rare ophthalmic disorder with characteristics of a non-infectious uveitis potentially involving all parts of the uveal tract and due to a paraneoplastic autoimmune reaction. The signs and symptoms usually precede the neoplasm diagnosis and may include ocular redness and pain, light sensitivity, blurred vision, floaters and decreased vision. The most classic form is the intermediate uveitis associated with anti-CV2 antibodies in small-cell lung cancer or other neoplasms. Other ocular and/or extra-ocular manifestations are commonly present in addition.	Outdated component (foundation metadata concept)
A rare ophthalmic disorder with characteristics of clinical signs of Graves orbitopathy (such as unilateral or bilateral lid retraction, exophthalmos, soft tissue involvement, restrictive myopathy, and/or optic neuropathy) with normal thyroid function and without any signs of hyperthyroidism. Laboratory examination typically reveals low serum levels of thyroid-stimulating hormone receptor autoantibodies.	Outdated component (foundation metadata concept)
A rare ophthalmic disorder with characteristics of idiopathic orbital inflammation in which the specific target tissue is the optic nerve sheath. Patients typically present with ocular pain, pain on eye movement, visual symptoms with loss of vision progressing over several weeks, dyschromatopsia and variable visual field defects. Orbital signs and symptoms may be present and include ptosis, ophthalmoplegia, and exophthalmos. Optic disc edema is observed in most cases. The condition is usually unilateral.	Outdated component (foundation metadata concept)
A rare ophthalmic disorder with characteristics of idiopathic orbital inflammation in which the specific target tissue is the optic nerve sheath. Patients typically present with ocular pain, pain on eye movement, visual symptoms with loss of vision progressing over several weeks, dyschromatopsia and variable visual field defects. Orbital signs and symptoms may be present and include ptosis, ophthalmoplegia, and exophthalmos. Optic disc oedema is observed in most cases. The condition is usually unilateral.	Outdated component (foundation metadata concept)
A rare ophthalmic disorder with cranial nerve involvement and characteristics of dysfunction of the superior oblique muscle with typical eye motility patterns including elevation in adduction, V-pattern related to reduced abduction force in downgaze with unopposed adduction by the inferior rectus muscle and excyclotorsion. Patients may present with contralateral head tilt to compensate for vertical binocular misalignment and diplopia.	Outdated component (foundation metadata concept)
A rare ophthalmic disorder with cranial nerve involvement and characteristics of partial or complete ptosis and ophthalmoplegia with impaired ability to elevate, depress or adduct the eyeball, causing strabismus and amblyopia. The pupils can also be dilated. The condition is typically unilateral and may present with or without aberrant regeneration.	Outdated component (foundation metadata concept)
A rare organic aciduria characterised by early onset of global developmental delay with severe intellectual disability, seizures and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behaviour, optic atrophy or spasticity. Brain imaging may show generalised cerebral atrophy and white matter abnormalities.	Outdated component (foundation metadata concept)
A rare organic aciduria characterised by neonatal onset of hypotonia, recurrent apnoeic episodes, lack of psychomotor development, feeding difficulties, extrapyramidal signs and seizures. Other reported features include microcephaly, sensorineural deafness, bradycardia and neutropenia. Laboratory studies show increased serum lactate and urinary excretion of 3-methylglutaconic acid. Brain imaging may reveal progressive cerebral atrophy. The disease is lethal in infancy.	Outdated component (foundation metadata concept)
A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.	Outdated component (foundation metadata concept)
A rare organic aciduria characterized by neonatal onset of hypotonia, recurrent apneic episodes, lack of psychomotor development, feeding difficulties, extrapyramidal signs and seizures. Other reported features include microcephaly, sensorineural deafness, bradycardia and neutropenia. Laboratory studies show increased serum lactate and urinary excretion of 3-methylglutaconic acid. Brain imaging may reveal progressive cerebral atrophy. The disease is lethal in infancy.	Outdated component (foundation metadata concept)
A rare osteonecrosis with characteristics of an exposed necrotic lesion in the mandible or maxilla present for more than eight weeks, arising as a complication of antiresorptive medication, dental intervention, trauma and infection. Patients may present with pain, altered neurosensory functions, secondary infections, and (in advanced stages) pathological fractures or fistulae.	Outdated component (foundation metadata concept)
A rare osteonecrosis with characteristics of bone necrosis due to disrupted blood supply in the absence of a known cause. Affected bones include the femoral head, talus, vertebral body, humerus and scaphoid among others. Patients may initially be asymptomatic but subsequently present with gradually developing refractory pain, swelling and reduced range of motion. If left untreated the condition may progress to bone collapse with secondary degeneration, fragmentation and pathological fracture as well as osteoarthritis.	Outdated component (foundation metadata concept)
A rare otorhinolaryngologic disease with characteristics of an indolent submucosal mass of variable size and extent, most commonly arising in the anterior nasal cavity, involving the nasal septum and lateral nasal wall and potentially extending into the adjacent sinuses. Occurrence in the larynx and lower respiratory tract or the orbit is rare. Histological examination shows concentric angiocentric stromal fibrosis (onionskin fibrosis) and prominent eosinophils. Increased numbers of IgG4-positive plasma cells in the lesion may also be observed, in addition to elevated serum IgG4. Patients typically present with long-standing obstructive symptoms.	Outdated component (foundation metadata concept)
A rare otorhinolaryngological malformation characterised by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibres present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome and may be associated with a hypoplastic internal auditory or cochlear nerve canal.	Outdated component (foundation metadata concept)
A rare otorhinolaryngological malformation characterized by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibers present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome and may be associated with a hypoplastic internal auditory or cochlear nerve canal.	Outdated component (foundation metadata concept)
A rare otorhinolaryngological malformation syndrome with characteristics of a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability. Reported in 3 families to date. The facies has a mask-like appearance due to weakness of facial muscles and lacrimal duct obstruction is characteristic. Clinical features also include telecanthus, bulky nose, broad nasal bridge, sometimes a hypoplastic midface, longitudinal cheek furrows, trapezoidal upper lip and malformation of the ears. Intellectual disability, cutaneous syndactyly, torsion dystonia, increased deep tendon reflexes; Babinski sign, poor coordination and joint laxity are also observed.	Outdated component (foundation metadata concept)
A rare otorhinolaryngological malformation with a unilateral or bilateral fistula located at the corner of the mouth, where the vermillion border of the upper lip meets that of the lower lip. The lesion is lined by labial mucosa. It is potentially susceptible to infection.	Outdated component (foundation metadata concept)
A rare otorhinolaryngological malformation with characteristics of varying degrees of malformation of the inner ear associated with severe to profound congenital sensorineural hearing loss in the absence of cochlear nerve anomalies (hypoplasia or aplasia). Categorisation of the malformation is based on the morphology of the cochlea, modiolus, and lamina cribrosa, which can range from normal development of these structures (with the malformation being limited to other structures of the inner ear) to their complete absence.	Outdated component (foundation metadata concept)
A rare otorhinolaryngological malformation with characteristics of varying degrees of malformation of the inner ear associated with severe to profound congenital sensorineural hearing loss in the absence of cochlear nerve anomalies (hypoplasia or aplasia). Categorization of the malformation is based on the morphology of the cochlea, modiolus, and lamina cribrosa, which can range from normal development of these structures (with the malformation being limited to other structures of the inner ear) to their complete absence.	Outdated component (foundation metadata concept)
A rare otorhinolaryngological malformation with the presence of a cyst, sinus or fistula occurring along the anterior border of the sternocleidomastoid muscle. Second branchial cleft fistula and sinuses present with skin opening with chronic discharge and recurrent infections, whereas second branchial cleft cysts present as a painless, nontender, stable in size or slowly enlarging lateral neck masses. Cysts occasionally acutely increase in size during upper respiratory tract infection, leading to respiratory compromise, torticollis and dysphagia.	Outdated component (foundation metadata concept)
A rare ovarian germ cell malignant tumor arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin. It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma.	Outdated component (foundation metadata concept)
A rare ovarian germ cell malignant tumour arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterised by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin. It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma.	Outdated component (foundation metadata concept)
A rare overgrowth syndrome associated with multiple congenital anomalies with characteristics of tall stature, large hands and feet with large thumbs and halluces, spatulate digits, developmental delay and facial dysmorphism. Biallelic loss of function variants in FIBP (11q13.1) are responsible for this phenotype. Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A rare overgrowth syndrome with characteristics of long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibia and dysmorphic facial features (hypertelorism, high palate, or micrognathia) along with aortic root dilatation and umbilical hernia have also been reported.	Outdated component (foundation metadata concept)
A rare overgrowth syndrome with skeletal involvement and characteristics of pre or postnatal onset of overgrowth, accelerated bone age in infancy and early childhood, tall stature, bony overgrowth of the skull base, spondylar dysplasia, and undermodeling of the tubular bones. Facial dysmorphism includes mild hypertelorism, depressed nasal bridge, short and broad nose, and full lower lip. Additional reported features are scoliosis, as well as delayed puberty, cryptorchidism, and hypospadias.	Outdated component (foundation metadata concept)
A rare overgrowth syndrome with skeletal involvement and characteristics of pre or postnatal onset of overgrowth, accelerated bone age in infancy and early childhood, tall stature, bony overgrowth of the skull base, spondylar dysplasia, and undermodelling of the tubular bones. Facial dysmorphism includes mild hypertelorism, depressed nasal bridge, short and broad nose, and full lower lip. Additional reported features are scoliosis, as well as delayed puberty, cryptorchidism, and hypospadias.	Outdated component (foundation metadata concept)
A rare palpebral disorder characterised by recurrent episodes of painless eyelid oedema. It usually occurs bilaterally, typically affects the upper eyelids, and may manifest as a hypertrophic form resulting in orbital fat herniation through a weakened orbital septum, or an atrophic form with atrophy of redundant eyelid skin and superior nasal fat pads. Additional findings are formation of pseudo epicanthal folds, lacrimal gland prolapse or ptosis.	Outdated component (foundation metadata concept)
A rare palpebral disorder characterized by recurrent episodes of painless eyelid edema. It usually occurs bilaterally, typically affects the upper eyelids, and may manifest as a hypertrophic form resulting in orbital fat herniation through a weakened orbital septum, or an atrophic form with atrophy of redundant eyelid skin and superior nasal fat pads. Additional findings are formation of pseudo epicanthal folds, lacrimal gland prolapse or ptosis.	Outdated component (foundation metadata concept)
A rare partial duplication of the long arm of chromosome 17 with characteristics of a combination of features of 17p11.2 microduplication syndrome and Charcot-Marie-Tooth disease type 1A. Patients present with infantile onset of global developmental delay, hypotonia, feeding difficulties and failure to thrive, as well as childhood onset of peripheral neuropathy with distal extremity weakness or atrophy, gait impairment, sensory loss, reduced or absent deep tendon reflexes of the ankles and foot deformities. Facial dysmorphism, cardiac and renal anomalies and syringomyelia may also be observed.	Outdated component (foundation metadata concept)
A rare persistent combined dystonia characterised by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalised dystonia with involvement of the upper limbs, trunk, face and neck. Variable developmental delay and intellectual disability, along with mild microcephaly, short stature, abnormal eye movements and slightly dysmorphic facial features have been reported in association.	Outdated component (foundation metadata concept)
A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face and neck. Variable developmental delay and intellectual disability, along with mild microcephaly, short stature, abnormal eye movements and slightly dysmorphic facial features have been reported in association.	Outdated component (foundation metadata concept)
A rare pervasive developmental disorder with characteristics of microcephaly, profound developmental delay, intellectual disability, bilateral cataracts, severe epilepsy including infantile spasms, hypotonia, irritability, feeding difficulties leading to failure to thrive and stereotypic hand movements. The disease manifests in infancy. Brain imaging reveals delay in myelination and cerebral atrophy.	Outdated component (foundation metadata concept)
A rare potentially lethal oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and with characteristics of septic thrombophlebitis of the internal jugular vein that leads to septic usually pulmonary embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain and tonsillopharyngitis.	Outdated component (foundation metadata concept)
A rare predominantly axonal hereditary motor and sensory neuropathy with characteristics of broad phenotypic spectrum of slowly progressive signs and symptoms mainly affecting the lower limbs. Most patients present with gait difficulties and distal sensory impairment while some may lack sensory symptoms altogether. Pes cavus is frequently reported. Age of onset is also highly variable ranging from childhood to late adulthood.	Outdated component (foundation metadata concept)
A rare predominantly pure hereditary spastic paraplegia with characteristics of 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.	Outdated component (foundation metadata concept)
A rare primary bone dysplasia characterised by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic haematological feature of this disease.	Outdated component (foundation metadata concept)
A rare primary bone dysplasia characterised by osteosclerosis localised predominantly to the metaphyses and epiphyseal margins of the appendicular bones and metaphyseal equivalents of the axial bones, as well as the vertebral endplates, costal ends and margins of the flat bones. The skull is usually unaffected. The condition is associated with developmental delay and hypotonia. Seizures and spastic paraplegia have also been reported. Serum alkaline phosphatase and urinary pyridinoline and deoxypyridinoline levels may be elevated.	Outdated component (foundation metadata concept)
A rare primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.	Outdated component (foundation metadata concept)
A rare primary bone dysplasia characterized by osteosclerosis localized predominantly to the metaphyses and epiphyseal margins of the appendicular bones and metaphyseal equivalents of the axial bones, as well as the vertebral endplates, costal ends and margins of the flat bones. The skull is usually unaffected. The condition is associated with developmental delay and hypotonia. Seizures and spastic paraplegia have also been reported. Serum alkaline phosphatase and urinary pyridinoline and deoxypyridinoline levels may be elevated.	Outdated component (foundation metadata concept)
A rare primary bone dysplasia disorder characterised by short stature with severe shortening of limbs, genu vara deformity and enlarged joints with movement limitation particularly affecting the hip joints. Radiological findings show coxa vara, generalised metaphyseal irregularities of the tubular bones (including cupping, fraying and splaying), which are more severe in the femur and forearm bones than the metacarpals and phalanges and vertebral abnormalities including ovoid vertebral bodies with anterior rectangular protrusions and severe platyspondyly.	Concept non-current
A rare primary bone dysplasia disorder characterized by short stature with severe shortening of limbs, genu vara deformity and enlarged joints with movement limitation particularly affecting the hip joints. Radiological findings show coxa vara, generalized metaphyseal irregularities of the tubular bones (including cupping, fraying and splaying), which are more severe in the femur and forearm bones than the metacarpals and phalanges and vertebral abnormalities including ovoid vertebral bodies with anterior rectangular protrusions and severe platyspondyly.	Concept non-current
A rare primary bone dysplasia disorder with characteristics of infantile-onset, progressive, multiple skeletal deformities in association with slowly progressive central and peripheral neurodegeneration. Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. Imaging shows abnormally shaped vertebral bodies, small, flat epiphyses, and widened metaphyses, as well as cerebral and cerebellar atrophy and progressive axonal-hypomyelinating neuropathy.	Concept non-current
A rare primary bone dysplasia with characteristics of cone-shaped epiphyses of the phalanges, hyperextensibility and hyper-flexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.	Concept non-current
A rare primary bone dysplasia with characteristics of microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities and severe joint laxity resulting in multiple joint dislocations.	Outdated component (foundation metadata concept)
A rare primary bone dysplasia with characteristics of micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapula, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, 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.	Outdated component (foundation metadata concept)
A rare primary bone dysplasia with characteristics of multiple small round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal and tarsal bones. The condition is usually clinically silent and discovered only incidentally although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal.	Outdated component (foundation metadata concept)
A rare primary bone dysplasia with characteristics of proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs and lordosis. Caused by heterozygous mutation in the ACAN gene on chromosome 15q26.	Outdated component (foundation metadata concept)
A rare primary bone dysplasia with characteristics of reduced bone mineral density (defined as a Z score below -2.0), vertebral compression fractures, and recurrent peripheral fractures caused by low-impact trauma, leading to bone pain and impaired mobility. Patients typically become symptomatic in childhood or adolescence.	Outdated component (foundation metadata concept)
A rare primary bone dysplasia with characteristics of short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachymetacarpia.	Outdated component (foundation metadata concept)
A rare primary bone dysplasia with increased bone density and characteristics of slowly progressive endosteal hyperostosis and osteosclerosis exclusively of the skull base and the calvaria, resulting in entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII. First symptoms often appear during the second decade of life and include disturbances in smell, vision, facial sensation and expression, hearing and balance as well as headaches due to increased ocular and intracranial pressure. After the fourth decade, radiological progression is minimal, although decreased intracranial volume can lead to death in severe cases.	Outdated component (foundation metadata concept)
A rare primary combined T and B cell immunodeficiency with characteristics of early-onset of recurrent, invasive viral and bacterial infections associated with T and B cell lymphopenia, functional defects in T and B cells, poor antibody response and thrombocytopenia. Depending on the type of infectious agent, variable clinical manifestations commonly include recurrent pneumonia, bronchiolitis, otitis media, meningoencephalitis, colitis, and diarrhea, leading to fatal multiorgan failure in severe cases.	Outdated component (foundation metadata concept)
A rare primary combined T and B cell immunodeficiency with characteristics of early-onset of recurrent, invasive viral and bacterial infections associated with T and B cell lymphopenia, functional defects in T and B cells, poor antibody response and thrombocytopenia. Depending on the type of infectious agent, variable clinical manifestations commonly include recurrent pneumonia, bronchiolitis, otitis media, meningoencephalitis, colitis, and diarrhoea, leading to fatal multiorgan failure in severe cases.	Outdated component (foundation metadata concept)
A rare primary congenital hypothyroidism with characteristics of a markedly reduced T4/T3 ratio, normal levels of thyroid-stimulating hormone and a highly variable clinical phenotype, which most commonly includes decreased metabolic rate, bradycardia, chronic constipation, neurodevelopmental delay, delayed bone age and skeletal abnormalities. Dysmorphic craniofacial features, such as macrocephaly, broad face, flat nose, large tongue and thick lips have also been reported. Some patients may show only minimal signs and symptoms.	Outdated component (foundation metadata concept)
A rare primary genetic renal tumor usually characterized by a unilateral, unicentric, morphologically diverse tumor that arises from the renal medulla and has a tendency for vascular invasion. Clinically it presents with a palpable abdominal mass, abdominal or flank pain, hematuria, anemia and/or fatigue. Metastatic spread to lymph nodes, bones, lungs, retroperitoneum, brain and liver is common at time of diagnosis and therefore bone pain, cough or neurological compromise may be associated. Metastasis to unusual sites, such as the scalp, neck, nasopharynx, axilla, orbits and epidural space have been reported.	Outdated component (foundation metadata concept)
A rare primary genetic renal tumour usually characterised by a unilateral, unicentric, morphologically diverse tumour that arises from the renal medulla and has a tendency for vascular invasion. Clinically it presents with a palpable abdominal mass, abdominal or flank pain, haematuria, anaemia and/or fatigue. Metastatic spread to lymph nodes, bones, lungs, retroperitoneum, brain and liver is common at time of diagnosis and therefore bone pain, cough or neurological compromise may be associated. Metastasis to unusual sites, such as the scalp, neck, nasopharynx, axilla, orbits and epidural space have been reported.	Outdated component (foundation metadata concept)
A rare primary germ cell tumor of central nervous system characterized by a lesion typically in the region of the pineal gland and the suprasellar compartment, composed of cytotrophoblastic elements and multinucleated syncytiotrophoblastic giant cells. Ectatic stromal vascular channels, blood lakes, and extensive hemorrhagic necrosis are the rule. The tumor usually arises in the second decade of life and predominantly in males. Clinical presentation depends on location and size and includes signs of increased intracranial pressure, visual disturbances and endocrine abnormalities. Prognosis is generally poor.	Outdated component (foundation metadata concept)
A rare primary germ cell tumour of central nervous system characterised by a lesion typically in the region of the pineal gland and the suprasellar compartment, composed of cytotrophoblastic elements and multinucleated syncytiotrophoblastic giant cells. Ectatic stromal vascular channels, blood lakes, and extensive haemorrhagic necrosis are the rule. The tumour usually arises in the second decade of life and predominantly in males. Clinical presentation depends on location and size and includes signs of increased intracranial pressure, visual disturbances and endocrine abnormalities. Prognosis is generally poor.	Outdated component (foundation metadata concept)
A rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterised by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, oedema, hypertension, and hyperlipidaemia. Psychomotor development is normal. Caused by homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p.	Outdated component (foundation metadata concept)
A rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal. Caused by homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p.	Outdated component (foundation metadata concept)
A rare primary immunodeficiency characterised by infantile onset of generalised lymphadenopathy, splenomegaly and lymphocytosis with excessive polyclonal expansion of B-cells. Patients present recurrent infections and impaired T-cell and antibody responses, while overt autoimmune manifestations are usually absent. Occurrence of B-cell malignancy later in life has been reported.	Outdated component (foundation metadata concept)
A rare primary immunodeficiency characterised by recurrent atypical mycobacterial infections, accompanied by relatively minor viral infections on an immunological background of reduced induction of expression of interferon-regulated genes and dysregulated cytokine production, as revealed by laboratory studies. Global developmental delay and occurrence of non-haematopoietic malignancy at a young age have been reported in association.	Outdated component (foundation metadata concept)
A rare primary immunodeficiency characterised by variable combination of enteropathy, hypogammaglobulinaemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune haemolytic anaemia and lymphadenopathy.	Outdated component (foundation metadata concept)
A rare primary immunodeficiency characterized by infantile onset of generalized lymphadenopathy, splenomegaly and lymphocytosis with excessive polyclonal expansion of B-cells. Patients present recurrent infections and impaired T-cell and antibody responses, while overt autoimmune manifestations are usually absent. Occurrence of B-cell malignancy later in life has been reported.	Outdated component (foundation metadata concept)
A rare primary immunodeficiency characterized by recurrent atypical mycobacterial infections, accompanied by relatively minor viral infections on an immunological background of reduced induction of expression of interferon-regulated genes and dysregulated cytokine production, as revealed by laboratory studies. Global developmental delay and occurrence of non-hematopoietic malignancy at a young age have been reported in association.	Outdated component (foundation metadata concept)
A rare primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy.	Outdated component (foundation metadata concept)
A rare primary immunodeficiency with characteristics of a severe, potentially life-threatening course of influenza A infection with acute respiratory distress. Production of type I and III interferons in response to influenza virus is very low, while other immunological abnormalities are absent and no further unusual viral infections occur.	Outdated component (foundation metadata concept)
A rare primary immunodeficiency with characteristics of increased susceptibility to infections with candida albicans and weakly pathogenic mycobacteria, such as mycobacterium bovis. Patients present in infancy with chronic mucocutaneous candidiasis of varying severity, disseminated mycobacterial disease, absence of palpable axillary and cervical lymph nodes, reduced thymus size and variable hepatosplenomegaly. The immunological phenotype comprises mild T-cell lymphopenia, absence of type 1 natural killer T-cells and mucosal-associated invariant T-cells, and low levels of type 3 innate lymphoid cells.	Outdated component (foundation metadata concept)
A rare primary immunodeficiency with characteristics of increased susceptibility to intracellular bacterial and viral infection, with or without increased serum immunoglobulin E. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.	Outdated component (foundation metadata concept)
A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients.	Outdated component (foundation metadata concept)
A rare primary lymphedema characterized by extensive multisegmental lymphedema associated with persistent, widespread infections with various genital high and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported.	Outdated component (foundation metadata concept)
A rare primary lymphoedema characterised by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral oedema and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients.	Outdated component (foundation metadata concept)
A rare primary lymphoedema characterised by extensive multisegmental lymphoedema associated with persistent, widespread infections with various genital high and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal naevi and capillary malformations have also been reported.	Outdated component (foundation metadata concept)
A rare primary malignant hepatic neoplasm of childhood that is mesenchymal in origin. It can rarely occur in adults. It has manifestations of abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache.	Outdated component (foundation metadata concept)
A rare primary organ-specific extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localisation of the tumour and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilloedema) and/or focal neurological deficits.	Outdated component (foundation metadata concept)
A rare primary organ-specific extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits.	Outdated component (foundation metadata concept)
A rare progressive neurodegenerative disorder with typical onset between 50 and 65 years of age. Manifestation is of progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities. Prevalence is unknown, largely due to the lack of awareness of the syndrome and the inaccurate terminology referring to it. Alzheimer's disease is the most common underlying pathology, but cases attributable to Dementia with Lewy Bodies, corticobasal degeneration or prion disease have also been reported.	Outdated component (foundation metadata concept)
A rare pterygium inherited autosomal dominantly, which develops in early adulthood. With characteristics of a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision.	Outdated component (foundation metadata concept)
A rare pulmonary disease characterised by primary or nonbacteraemic pneumonia most frequently arising in an intensive care setting or bacteraemic pneumonia which is typically associated with neutropenia. Chronic lower respiratory tract infection with development of episodes of pneumonia is common in patients with cystic fibrosis. Acute infections are potentially life-threatening. Patients present with fever, chills, dyspnoea, cyanosis, productive cough, as well as signs of severe systemic toxicity. Alveolar haemorrhage, necrosis and eventually cavity formation, are commonly seen.	Outdated component (foundation metadata concept)
A rare pulmonary disease characterized by primary or nonbacteremic pneumonia most frequently arising in an intensive care setting or bacteremic pneumonia which is typically associated with neutropenia. Chronic lower respiratory tract infection with development of episodes of pneumonia is common in patients with cystic fibrosis. Acute infections are potentially life-threatening. Patients present with fever, chills, dyspnea, cyanosis, productive cough, as well as signs of severe systemic toxicity. Alveolar hemorrhage, necrosis and eventually cavity formation, are commonly seen.	Outdated component (foundation metadata concept)

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Reference Sets

Reference set descriptor

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Id	Description	Lang	Type	Status	Case?	Module
900000000001069012	Description inactivation indicator attribute value reference set	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)
900000000001070013	Description inactivation indicator reference set	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)
900000000001071012	Description inactivation indicator attribute 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)