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 intellectual disability and epilepsy syndrome characterised by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalised seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.	A component that is no longer current, useful, appropriate or acceptable.
A rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.	A component that is no longer current, useful, appropriate or acceptable.
A rare intellectual disability syndrome characterised by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioural abnormalities (e.g. anxiety, stereotyped movements) and absence or generalised tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly. The disease is caused by homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13.	A component that is no longer current, useful, appropriate or acceptable.
A rare intellectual disability syndrome characterised by pre and postnatal growth deficiency, generalised muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency has also been reported in some patients.	A component that is no longer current, useful, appropriate or acceptable.
A rare intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly. The disease is caused by homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13.	A component that is no longer current, useful, appropriate or acceptable.
A rare intellectual disability syndrome characterized by pre and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency has also been reported in some patients.	A component that is no longer current, useful, appropriate or acceptable.
A rare intellectual disability syndrome with characteristics of growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.	A component that is no longer current, useful, appropriate or acceptable.
A rare intellectual disability syndrome with characteristics of severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).	A component that is no longer current, useful, appropriate or acceptable.
A rare intellectual disability syndrome with manifestations of severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.	A component that is no longer current, useful, appropriate or acceptable.
A rare intellectual disability syndrome with most common characteristics of megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare intestinal disease characterised by persistent or recurrent symptoms and signs of confirmed coeliac disease despite a long-term, strict, gluten-free diet, in the absence of other causes of villous atrophy or malignant complications and with or without presence of increased abnormal intraepithelial lymphocytes.	A component that is no longer current, useful, appropriate or acceptable.
A rare intestinal disease characterized by persistent or recurrent symptoms and signs of confirmed celiac disease despite a long-term, strict, gluten-free diet, in the absence of other causes of villous atrophy or malignant complications and with or without presence of increased abnormal intraepithelial lymphocytes.	A component that is no longer current, useful, appropriate or acceptable.
A rare intestinal disease with characteristics of congenital partial or complete lack of the collagen mesh network in the intestinal wall resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near normal in the affected areas, although hypo and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation.	A component that is no longer current, useful, appropriate or acceptable.
A rare intestinal disorder characterised by the inability to control the passage of rectal contents (faeces, gas) through the anus following ileal pouch-anal anastomosis surgery. Faecal incontinence is usually more frequent during the night than during daytime. The condition generally worsens over time with a significant negative impact on the quality of life of the patient.	A component that is no longer current, useful, appropriate or acceptable.
A rare intestinal disorder characterized by the inability to control the passage of rectal contents (feces, gas) through the anus following ileal pouch-anal anastomosis surgery. Fecal incontinence is usually more frequent during the night than during daytime. The condition generally worsens over time with a significant negative impact on the quality of life of the patient.	A component that is no longer current, useful, appropriate or acceptable.
A rare intestinal disorder of neonates of unknown aetiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhoea, vomiting and failure to thrive.	A component that is no longer current, useful, appropriate or acceptable.
A rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.	A component that is no longer current, useful, appropriate or acceptable.
A rare intoxication affecting children, most commonly characterised by erythema of the hands, feet and nose, oedematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paraesthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia.	A component that is no longer current, useful, appropriate or acceptable.
A rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia.	A component that is no longer current, useful, appropriate or acceptable.
A rare isolated constitutional thrombocytopenia characterised 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 haematoma and potential postpartum haemorrhage among others.	A component that is no longer current, useful, appropriate or acceptable.
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.	A component that is no longer current, useful, appropriate or acceptable.
A rare isolated constitutional thrombocytopenia with characteristics of neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.	A component that is no longer current, useful, appropriate or acceptable.
A rare isolated hereditary giant platelet disorder characterised by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestations are recurrent bleeding episodes including epistaxis, spontaneous haematoma and menorrhagia.	A component that is no longer current, useful, appropriate or acceptable.
A rare isolated hereditary giant platelet disorder characterized by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestations are recurrent bleeding episodes including epistaxis, spontaneous hematoma and menorrhagia.	A component that is no longer current, useful, appropriate or acceptable.
A rare isolated nail anomaly with characteristics of claw-shaped thick hyperplastic hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported. There is evidence the disease can be caused by homozygous mutation in the FZD6 gene on chromosome 8q22.3-q23.1.	A component that is no longer current, useful, appropriate or acceptable.
A rare juvenile idiopathic inflammatory myopathy characterised by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (for example systemic lupus erythematosus, localised scleroderma, diabetes). Cardiac involvement has been reported in some patients.	A component that is no longer current, useful, appropriate or acceptable.
A rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (for example systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients.	A component that is no longer current, useful, appropriate or acceptable.
A rare larynx anomaly with a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, feeding difficulties and failure to thrive. It can be associated with laryngomalacia.	A component that is no longer current, useful, appropriate or acceptable.
A rare late adult-onset myofibrillar myopathy with characteristics of progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.	A component that is no longer current, useful, appropriate or acceptable.
A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.	A component that is no longer current, useful, appropriate or acceptable.
A rare lethal congenital myopathy syndrome characterised by decreased fetal movements and polyhydramnios in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal haemorrhages and decreased birth weight in the neonate.	A component that is no longer current, useful, appropriate or acceptable.
A rare lethal congenital myopathy syndrome characterized by decreased fetal movements and polyhydramnios in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.	A component that is no longer current, useful, appropriate or acceptable.
A rare lethal developmental defect during embryogenesis with characteristics of severe fetal malformations. These malformations include craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile hypoplastic limbs encased under an abnormal, transparent membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horseshoe kidneys, diaphragm and lung lobulation defects is reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare lethal multiple congenital anomalies/dysmorphic syndrome with the association of fetal akinesia sequence, bilateral microphthalmia, microtia and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare lethal primary bone dysplasia with characteristics of fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.	A component that is no longer current, useful, appropriate or acceptable.
A rare leucodystrophy characterised by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy and diffuse spinal cord volume loss.	A component that is no longer current, useful, appropriate or acceptable.
A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy and diffuse spinal cord volume loss.	A component that is no longer current, useful, appropriate or acceptable.
A rare life threatening acquired neurologic disease with characteristics of neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.	A component that is no longer current, useful, appropriate or acceptable.
A rare life-threatening autoinflammatory syndrome with immune deficiency disorder characterised by early-onset life-long inflammation affecting the skin and bowel associated with recurrent infections. Presents with perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhoea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.	A component that is no longer current, useful, appropriate or acceptable.
A rare life-threatening autoinflammatory syndrome with immune deficiency disorder characterized by early-onset life-long inflammation affecting the skin and bowel associated with recurrent infections. Presents with perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.	A component that is no longer current, useful, appropriate or acceptable.
A rare life-threatening congenital non-syndromic conotruncal heart malformation with characteristics of absent or severely undeveloped pulmonary valve leaflets (with a restrictive ring of thickened tissue at the place of the pulmonary valve annulus) associated with an intact ventricular septum and a patent ductus arteriosus, manifesting with marked respiratory insufficiency. Additional features include dilated main pulmonary artery (with or without dilatation of pulmonary artery branches), to-and-fro flow at site of the dysplastic pulmonary valve and systolic pressure gradient across narrowed pulmonary valve. Tricuspid atresia and variable extra-cardiac anomalies (for example diaphragmatic hernia or cleft lip/palate) may be present.	A component that is no longer current, useful, appropriate or acceptable.
A rare life-threatening cutaneous disease characterised by a keratinocytic epidermal naevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.	A component that is no longer current, useful, appropriate or acceptable.
A rare life-threatening cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.	A component that is no longer current, useful, appropriate or acceptable.
A rare life-threatening genetic coagulation disorder with characteristics of an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis.	A component that is no longer current, useful, appropriate or acceptable.
A rare life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterised by vomiting, diarrhoea and central nervous system excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by central nervous system depression, coma and cerebral oedema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalaemia and hypocalcaemia and progressive renal failure leading to anuria. Myoglobinaemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours.	A component that is no longer current, useful, appropriate or acceptable.
A rare life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by central nervous system depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia and hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours.	A component that is no longer current, useful, appropriate or acceptable.
A rare life-threatening mitochondrial DNA depletion syndrome disease with characteristics of severe progressive sensorimotor neuropathy associated with corneal ulceration, scarring or anaesthesia, acral mutilation, metabolic and immunologic derangement and hepatopathy (which can manifest with fulminant hepatic failure, a Reye-like syndrome or indolent progression to liver cirrhosis, depending on clinical form involved), present in the Navajo Native American population. Clinical presentation includes failure to thrive, distal limb weakness with reduced sensation, limb contractures with loss of function, areflexia, recurrent metabolic acidosis with intercurrent illness, immunologic anomalies manifesting with severe systemic infections and sexual infantilism.	A component that is no longer current, useful, appropriate or acceptable.
A rare life-threatening mitochondrial DNA depletion syndrome disease with characteristics of severe progressive sensorimotor neuropathy associated with corneal ulceration, scarring or anesthesia, acral mutilation, metabolic and immunologic derangement and hepatopathy (which can manifest with fulminant hepatic failure, a Reye-like syndrome or indolent progression to liver cirrhosis, depending on clinical form involved), present in the Navajo Native American population. Clinical presentation includes failure to thrive, distal limb weakness with reduced sensation, limb contractures with loss of function, areflexia, recurrent metabolic acidosis with intercurrent illness, immunologic anomalies manifesting with severe systemic infections and sexual infantilism.	A component that is no longer current, useful, appropriate or acceptable.
A rare life-threatening neurometabolic disease with characteristics of a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.	A component that is no longer current, useful, appropriate or acceptable.
A rare life-threatening non-inflammatory vasculopathy disorder characterised by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnoea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation.	A component that is no longer current, useful, appropriate or acceptable.
A rare life-threatening non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation.	A component that is no longer current, useful, appropriate or acceptable.
A rare lipoprotein metabolism disorder characterised clinically by corneal opacities and sometimes renal failure and haemolytic anaemia, and biochemically by severely reduced HDL cholesterol. Age of onset is variable but most patients are diagnosed during adulthood. Two familial forms of LCAT deficiency have been reported: familial LCAT deficiency characterised by corneal opacities, anaemia and renal insufficiency and Fish-eye disease characterised by corneal opacities and sometimes atherosclerosis. LCAT deficiency is caused by deficient or absent catalytic activity of the LCAT enzyme, which catalyses the formation of cholesterol esters in lipoproteins and is encoded by the LCAT gene (16q22.1). Accumulation of unesterified cholesterol in the body for example in the cornea, erythrocytes and kidneys, is thought to underlie the clinical manifestations.	A component that is no longer current, useful, appropriate or acceptable.
A rare lipoprotein metabolism disorder characterized clinically by corneal opacities and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol. Age of onset is variable but most patients are diagnosed during adulthood. Two familial forms of LCAT deficiency have been reported: familial LCAT deficiency characterized by corneal opacities, anemia and renal insufficiency, and Fish-eye disease characterized by corneal opacities and sometimes atherosclerosis. LCAT deficiency is caused by deficient or absent catalytic activity of the LCAT enzyme, which catalyzes the formation of cholesterol esters in lipoproteins and is encoded by the LCAT gene (16q22.1). Accumulation of unesterified cholesterol in the body for example in the cornea, erythrocytes and kidneys, is thought to underlie the clinical manifestations.	A component that is no longer current, useful, appropriate or acceptable.
A rare lipoprotein metabolism disorder with biochemical characteristics of an almost complete absence of plasma high-density lipoproteins (HDL) and clinical characteristics of liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents and occasionally cardiovascular disease in adults. Approximately 100 cases have been described worldwide. The disease is due to mutations in the ABCA1 gene (9q31) encoding the ATP-binding cassette transporter (ABC1), a cholesterol efflux regulatory protein that is able to orient cellular cholesterol towards the cell surface and to facilitate its transfer towards the core of HDL. Mutations in this gene result in severe deficiency of plasma HDL cholesterol and deposition of cholesteryl and retinyl esters and carotenoids in nonadipose tissues. Transmission is autosomal recessive.	A component that is no longer current, useful, appropriate or acceptable.
A rare localised variant of Guillain-Barré syndrome characterised by rapidly progressive bilateral facial nerve palsy, distal paraesthesia and minimal or no motor weakness. Deep tendon reflexes are usually diminished or absent but can be present or even exaggerated in rare cases. Cerebrospinal fluid analysis may reveal albuminocytologic dissociation. Nerve conduction velocity studies often show demyelinating type of neuropathy although axonal polyneuropathy has been also described.	A component that is no longer current, useful, appropriate or acceptable.
A rare localized variant of Guillain-Barré syndrome characterized by rapidly progressive bilateral facial nerve palsy, distal paresthesia and minimal or no motor weakness. Deep tendon reflexes are usually diminished or absent but can be present or even exaggerated in rare cases. Cerebrospinal fluid analysis may reveal albuminocytologic dissociation. Nerve conduction velocity studies often show demyelinating type of neuropathy although axonal polyneuropathy has been also described.	A component that is no longer current, useful, appropriate or acceptable.
A rare lymphatic system anomaly with characteristics of multifocal congenital and progressive vascular lesions of the skin, gastrointestinal tract and occasionally other anatomic sites, causing potentially life-threatening thrombocytopenic coagulopathy. Macroscopically the lesions appear as round to oval red-brown plaques and as large as a few centimeters in diameter. Histopathologically they consist of dilated thin-walled vessels with variable endothelial hyperplasia, positive for lymphatic endothelial cell markers and resembling benign lymphangioendothelioma.	A component that is no longer current, useful, appropriate or acceptable.
A rare lymphatic system anomaly with characteristics of multifocal congenital and progressive vascular lesions of the skin, gastrointestinal tract and occasionally other anatomic sites, causing potentially life-threatening thrombocytopenic coagulopathy. Macroscopically the lesions appear as round to oval red-brown plaques and as large as a few centimetres in diameter. Histopathologically they consist of dilated thin-walled vessels with variable endothelial hyperplasia, positive for lymphatic endothelial cell markers and resembling benign lymphangioendothelioma.	A component that is no longer current, useful, appropriate or acceptable.
A rare lymphoid haemopathy defined as single or multiple tumours in the bone, not associated with infringement or violation of other extranodal malignant lymph nodes outside the area. It usually presents with bone pain, nerve compression, a palpable mass or fracture, while systemic features (fever, night sweats, fatigue, loss of appetite, weight loss) are not common.	A component that is no longer current, useful, appropriate or acceptable.
A rare lymphoid hemopathy defined as single or multiple tumors in the bone, not associated with infringement or violation of other extranodal malignant lymph nodes outside the area. It usually presents with bone pain, nerve compression, a palpable mass or fracture, while systemic features (fever, night sweats, fatigue, loss of appetite, weight loss) are not common.	A component that is no longer current, useful, appropriate or acceptable.
A rare lymphoma of the lung defined as a clonal lymphoid proliferation affecting one or both lungs in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. Comprises low grade/indolent B cell forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell and lymphomatoid granulomatosis. Very rare and represents only 3-4% of extranodal non-Hodgkin lymphoma.	A component that is no longer current, useful, appropriate or acceptable.
A rare lymphoma with concurrent occurrence of two or more histologic types of lymphoma involving the same anatomic site. Composite lymphomas can be combinations of two non-Hodgkin lymphomas or of a non-Hodgkin and a Hodgkin lymphoma. In many cases, the neoplasms are clonally related. Clinical presentation and treatment are determined by the more aggressive component.	A component that is no longer current, useful, appropriate or acceptable.
A rare macular disorder with characteristics mostly of a variable degree of decreased visual acuity, jerk or pendular nystagmus and typical ocular findings at imaging. The disease is usually bilateral. Rarely nystagmus can be absent. Locally the disease has characteristics of an underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone and persistence of inner retinal layers at the fovea in absence of concomitant ocular or systemic pathology.	A component that is no longer current, useful, appropriate or acceptable.
A rare malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. Cooks syndrome is congenital and presents with hypo/anonychia, small or absent distal phalanges and digitalisation of the thumbs. Usually, the nails of digits 1-3 are progressively deformed, with anonychia congenita totalis in the digits 4-5 and in all toes. Additional features include hypoplasia of the distal phalanges in digits 2-4 with absence of the distal phalanx of digit 5. In the feet, there is absence of all distal phalanges of digits 2-5 with hypoplasia of the distal phalanx of digit 1.	A component that is no longer current, useful, appropriate or acceptable.
A rare malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. Cooks syndrome is congenital and presents with hypo/anonychia, small or absent distal phalanges and digitalization of the thumbs. Usually, the nails of digits 1-3 are progressively deformed, with anonychia congenita totalis in the digits 4-5 and in all toes. Additional features include hypoplasia of the distal phalanges in digits 2-4 with absence of the distal phalanx of digit 5. In the feet, there is absence of all distal phalanges of digits 2-5 with hypoplasia of the distal phalanx of digit 1.	A component that is no longer current, useful, appropriate or acceptable.
A rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, with characteristics of VATER-like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.	A component that is no longer current, useful, appropriate or acceptable.
A rare malformation with a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal abscess, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A fourth branchial cleft fistula passes deep to the superior laryngeal nerve but superficial to the recurrent laryngeal nerve, which is the main difference in comparison to the third branchial cleft fistula.	A component that is no longer current, useful, appropriate or acceptable.
A rare malformation with characteristics of a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal abscess, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A third branchial cleft fistula passes superficial to both the superior and recurrent laryngeal nerves, which is the main difference in comparison to the fourth branchial cleft fistula.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant epithelial neoplasm composed of undifferentiated epithelial cells with dense lymphoid stroma mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant germ cell tumor characterized by predominant composition of embryoid bodies consisting of a central core of embryonal carcinoma cells, an amnion-like cavity, and a yolk sac tumor component. The tumor usually occurs as the dominant component of a mixed germ cell tumor, with teratoma being the most common associated element. It may manifest as an abdominal mass or with abdominal pain, menstrual irregularities, or precocious puberty in women, while men typically present with testicular enlargement. Serum alpha-fetoprotein and/or beta-human chorionic gonadotropin can be elevated.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant germ cell tumor of ovary arising from germ cells in the ovary, frequently unilateral at diagnosis, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen, with certain subtypes being occasionally associated with isosexual precocity, virilization, hyperthyroidism or carcinoid syndrome. Histologically they comprise the following: embryonal carcinoma, yolk sac tumor, polyembryoma and mixed germ cell tumor.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant germ cell tumor that occur in the midline of the body as a result of abnormal germ cell migration during embryogenesis. Clinical manifestations are variable and depend on the location and size of the tumor. Central nervous system tumor might present with headache, visual disturbances, endocrine abnormalities, and signs of increased intracranial pressure. A mediastinal tumor commonly presents with chest pain, dyspnea, cough and fever. Abdominal mass with or without pain, backache and weight loss are common clinical presentations in retroperitoneal tumor.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant germ cell tumour characterised by predominant composition of embryoid bodies consisting of a central core of embryonal carcinoma cells, an amnion-like cavity, and a yolk sac tumour component. The tumour usually occurs as the dominant component of a mixed germ cell tumour, with teratoma being the most common associated element. It may manifest as an abdominal mass or with abdominal pain, menstrual irregularities, or precocious puberty in women, while men typically present with testicular enlargement. Serum alpha-fetoprotein and/or beta-human chorionic gonadotropin can be elevated.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant germ cell tumour of ovary arising from germ cells in the ovary, frequently unilateral at diagnosis, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen, with certain subtypes being occasionally associated with isosexual precocity, virilisation, hyperthyroidism or carcinoid syndrome. Histologically they comprise the following: embryonal carcinoma, yolk sac tumour, polyembryoma and mixed germ cell tumour.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant germ cell tumour that occur in the midline of the body as a result of abnormal germ cell migration during embryogenesis. Clinical manifestations are variable and depend on the location and size of the tumour. Central nervous system tumour might present with headache, visual disturbances, endocrine abnormalities, and signs of increased intracranial pressure. A mediastinal tumour commonly presents with chest pain, dyspnoea, cough and fever. Abdominal mass with or without pain, backache and weight loss are common clinical presentations in retroperitoneal tumour.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant haematologic disease characterised by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis) and genetic defects predisposing to acute myeloid leukaemia. Patients present with signs and symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant hematologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis) and genetic defects predisposing to acute myeloid leukemia. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant mesenchymal tumor of smooth muscle origin characterized histologically by spindle and/or pleomorphic cells, often forming disorganized fascicles, with tumor cell necrosis. Macroscopic characteristics are a large soft usually intramural mass with irregular borders and necrotic and hemorrhagic areas located in the uterus. Presenting signs and symptoms typically include dysfunctional vaginal bleeding, vaginal discharge, palpable pelvic mass and/or pelvic pain/pressure. Changes in bowel habits, frequent or painful urination and hematuria may also be associated.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastasize hematogenously, especially to the lungs, peritoneum, bones and the liver.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant mesenchymal tumour of smooth muscle origin characterised histologically by spindle and/or pleomorphic cells, often forming disorganised fascicles, with tumour cell necrosis. Macroscopic characteristics are a large soft usually intramural mass with irregular borders and necrotic and haemorrhagic areas located in the uterus. Presenting signs and symptoms typically include dysfunctional vaginal bleeding, vaginal discharge, palpable pelvic mass and/or pelvic pain/pressure. Changes in bowel habits, frequent or painful urination and haematuria may also be associated.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant mesenchymal tumour of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastasise haematogenously, especially to the lungs, peritoneum, bones and the liver.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant mixed epithelial and mesenchymal tumor of the uterine body composed of high-grade carcinomatous and sarcomatous elements. It may present with vaginal bleeding, abnormal vaginal discharge, abdominal pain and/or pelvic mass, with a polypoid tumor sometimes protruding through the cervical canal. Association with Tamoxifen therapy, long-term unopposed estrogen use and previous pelvic radiotherapy has been reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant mixed epithelial and mesenchymal tumour of the uterine body composed of high-grade carcinomatous and sarcomatous elements. It may present with vaginal bleeding, abnormal vaginal discharge, abdominal pain and/or pelvic mass, with a polypoid tumour sometimes protruding through the cervical canal. Association with Tamoxifen therapy, long-term unopposed oestrogen use and previous pelvic radiotherapy has been reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant neoplasm arising from embryonic remnants of the notochord in axial skeleton. The neoplasm is predominantly found in adults. The clinical presentation depends entirely on the location of the chordoma. The main possible locations are the sacrum, intracranially at the clivus and along the spinal axis. Chordoma has characteristics of slow growth, with local destruction of the bone and extension into the adjacent soft tissue.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant neoplastic disease characterised by clonal proliferation of myeloid and/or lymphoid precursors harbouring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin). It usually presents as chronic eosinophilic leukaemia or, less commonly, as acute myeloid leukaemia or T-lymphoblastic leukaemia with eosinophilia. Patients usually present with eosinophilia, anaemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant primary thymic neoplasm originating from neuroendocrine cells presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath or in some cases superior vena cava syndrome. Patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid syndrome respectively.	Concept non-current
A rare malignant sex cord stromal tumor of ovary occurring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) when functional.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and occasionally Cushing syndrome.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant sex cord stromal tumour of ovary occurring typically in young women and characterised by manifestations of androgen excess (hirsutism, hair loss, amenorrhoea, or oligomenorrhoea) when functional.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant sex cord stromal tumour of ovary of unknown histological lineage, occurring in adult women, characterised, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhoea, or oligomenorrhoea) and occasionally Cushing syndrome.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant tumor of the peritoneal cavity of extra-ovarian origin. Clinically and histologically similar to advanced-stage serous ovarian carcinoma. It is almost exclusively found in women. Can occur many years after oophorectomy performed for benign diseases or prophylactic oophorectomy. The tumor develops in the peritoneum and spreads to the abdomen, pelvis and ovaries.Primary peritoneal carcinoma has an epithelial origin and probably derives from embryonal epithelium. The fallopian tubes are suspected as the primary site.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant tumour of the peritoneal cavity of extra-ovarian origin. Clinically and histologically similar to advanced-stage serous ovarian carcinoma. It is almost exclusively found in women. Can occur many years after oophorectomy performed for benign diseases or prophylactic oophorectomy. The tumour develops in the peritoneum and spreads to the abdomen, pelvis and ovaries. Primary peritoneal carcinoma has an epithelial origin and probably derives from embryonal epithelium. The fallopian tubes are suspected as the primary site.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant, epithelial ovarian neoplasm, composed of clear, eosinophilic and hobnail cells displaying variable degrees of tubulocystic, papillary and solid histological patterns, macroscopically appearing as a typically unilateral mass in the ovary which ranges from solid to cystic. Patients are often diagnosed in early stages and usually present with pelvic pain and pressure, an abdominal mass and/or gastrointestinal problems, such as early satiety or bloating. Association with Lynch syndrome has been reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of a mixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, gray to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with human papillomavirus infection (especially serotype 16) has been frequently reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare malignant, mixed epithelial and mesenchymal tumour, located in the cervix uteri, composed of a mixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with human papillomavirus infection (especially serotype 16) has been frequently reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare mandibulofacial dysostosis with the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism and eyelid anomalies among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction and conductive hearing loss.	A component that is no longer current, useful, appropriate or acceptable.
A rare maternal disease-related embryofetopathy with characteristics of variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, encephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (for example bifid uvula, preauricular pit or tag). Consensus regarding cause and effect relationship has not been reached.	A component that is no longer current, useful, appropriate or acceptable.
A rare maxillofacial disorder with characteristics of significant reduction in mouth opening in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of cerebrospinal fluid circulation (for example due to basal arachnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (for example due to trauma, radiation necrosis, spinal abscess), spinal dysraphism or intramedullary neoplasm. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings.	A component that is no longer current, useful, appropriate or acceptable.

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Reference Sets

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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)