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 form of combined immunodeficiency characterised by recurrent viral, bacterial, mycobacterial and fungal infections from birth, chronic diarrhoea, pneumonia, meningitis, enteritis, gastrointestinal candidiasis, sepsis and otitis media. All patients present with ectodermal dysplasia that is characterised by hypocalcified amelogenesis imperfecta and leads to the loss of soft dental enamel. In addition, patients present at birth with congenital myopathy, which is characterised by non-progressive generalised muscular dysplasia. Caused by mutations in the ORAI1 and STIM1 genes (12q24 and 11p15.5). Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A form of combined immunodeficiency characterized by recurrent viral, bacterial, mycobacterial and fungal infections from birth, chronic diarrhea, pneumonia, meningitis, enteritis, gastrointestinal candidiasis, sepsis and otitis media. All patients present with ectodermal dysplasia that is characterized by hypocalcified amelogenesis imperfecta and leads to the loss of soft dental enamel. In addition, patients present at birth with congenital myopathy, which is characterized by non-progressive generalized muscular dysplasia. Caused by mutations in the ORAI1 and STIM1 genes (12q24 and 11p15.5). Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A form of congenital disorder of N-linked glycosylation, characterised by cyclic vomiting, profound hypoglycaemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin) and thrombotic events (protein C and S deficiency, low anti-thrombin III levels). Neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).	Outdated component (foundation metadata concept)
A form of congenital disorder of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminemia, life-threatening intestinal bleeding of diffuse origin) and thrombotic events (protein C and S deficiency, low anti-thrombin III levels). Neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).	Outdated component (foundation metadata concept)
A form of cyanosis that occurs when there is a decrease in oxygen saturation in the arterial blood, usually with an SaO2 of below 75%	Erroneous component (foundation metadata concept)
A form of diazoxide-sensitive diffuse hyperinsulinism caused by a lowered threshold for insulin release. Characterised by excessive/uncontrolled insulin secretion and recurrent episodes of profound hypoglycaemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Activating mutations of GCK (7p15.3-p15.1) that encodes glucokinase have been identified as the cause.	Outdated component (foundation metadata concept)
A form of diazoxide-sensitive diffuse hyperinsulinism caused by a lowered threshold for insulin release. Characterized by excessive/uncontrolled insulin secretion and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Activating mutations of GCK (7p15.3-p15.1) that encodes glucokinase have been identified as the cause.	Outdated component (foundation metadata concept)
A form of diazoxide-sensitive diffuse hyperinsulinism characterised by episodes of hypoglycaemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Patients present with recurring episodes of hypoglycaemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycaemia associated with exercise is variable and is only partially responsive to diazoxide. Mutations in the promoter element of SLC16A1 leads to an inappropriate presence of monocarboxylic acid transporter 1(MCT1). Mutations of the promoter region of SLC16A1 that permit gene expression in pancreatic beta-cells identified to date are dominant.	Outdated component (foundation metadata concept)
A form of diazoxide-sensitive diffuse hyperinsulinism characterised by hypoglycaemic episodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations.	Outdated component (foundation metadata concept)
A form of diazoxide-sensitive diffuse hyperinsulinism characterised by hypoglycaemic episodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Usually has a milder phenotype when compared to that resulting from recessive K+ channel mutations.	Outdated component (foundation metadata concept)
A form of diazoxide-sensitive diffuse hyperinsulinism characterised by macrosomia, transient or persistent hyperinsulinaemic hypoglycaemia, responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1. The disease frequently presents as neonatal hypoglycaemia. All patients are responsive to medical management with diazoxide. Family history of diabetes is usually, but not always present. Caused by mutations in HNF4A gene (20q13.12). The transmission is autosomal dominant with variable penetrance.	Outdated component (foundation metadata concept)
A form of diazoxide-sensitive diffuse hyperinsulinism characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Patients present with recurring episodes of hypoglycemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycemia associated with exercise is variable and is only partially responsive to diazoxide. Mutations in the promoter element of SLC16A1 leads to an inappropriate presence of monocarboxylic acid transporter 1(MCT1). Mutations of the promoter region of SLC16A1 that permit gene expression in pancreatic beta-cells identified to date are dominant.	Outdated component (foundation metadata concept)
A form of diazoxide-sensitive diffuse hyperinsulinism characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations.	Outdated component (foundation metadata concept)
A form of diazoxide-sensitive diffuse hyperinsulinism characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Usually has a milder phenotype when compared to that resulting from recessive K+ channel mutations.	Outdated component (foundation metadata concept)
A form of diazoxide-sensitive diffuse hyperinsulinism characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia, responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1. The disease frequently presents as neonatal hypoglycemia. All patients are responsive to medical management with diazoxide. Family history of diabetes is usually, but not always present. Caused by mutations in HNF4A gene (20q13.12). The transmission is autosomal dominant with variable penetrance.	Outdated component (foundation metadata concept)
A form of diazoxide-sensitive diffuse hyperinsulinism, characterised by transient or persistent hyperinsulinaemic hypoglycaemia in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 later in life.	Grammatical description error (foundation metadata concept)
A form of diazoxide-sensitive diffuse hyperinsulinism, characterized by transient or persistent hyperinsulinemic hypoglycemia in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 later in life.	Grammatical description error (foundation metadata concept)
A form of diffuse palmoplantar keratoderma that occurs between the ages of 5 and 15 and may be associated with the subsequent development of esophageal cancer	Erroneous component (foundation metadata concept)
A form of familial primary hypomagnesaemia (FPH) characterised by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes are described: with severe ocular involvement and without severe ocular involvement. The median age of onset ranges from 1 to 8 years. The disease is caused by mutations in the genes CLDN16 (3q28) and CLDN19 (1p34.2), encoding claudin-16 and claudin-19 respectively. Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A form of familial primary hypomagnesaemia characterised by low serum magnesium values but inappropriate normal urinary magnesium values (i.e. renal hypomagnaesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay. Less than 20 cases have been described in the literature. Caused by mutations in either CNNM2 (10q23.32) or EGF (4q25). CNNM2 encodes cyclin M2, a ubiquitous protein, predominantly expressed in the thick ascending limb of Henle's loop and in the renal distal convoluted tubule where it is thought to contribute to a magnesium-sensing mechanism.	Outdated component (foundation metadata concept)
A form of familial primary hypomagnesemia (FPH) characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes are described: with severe ocular involvement and without severe ocular involvement. The median age of onset ranges from 1 to 8 years. The disease is caused by mutations in the genes CLDN16 (3q28) and CLDN19 (1p34.2), encoding claudin-16 and claudin-19 respectively. Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A form of familial primary hypomagnesemia characterized by low serum magnesium values but inappropriate normal urinary magnesium values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay. Less than 20 cases have been described in the literature. Caused by mutations in either CNNM2 (10q23.32) or EGF (4q25). CNNM2 encodes cyclin M2, a ubiquitous protein, predominantly expressed in the thick ascending limb of Henle's loop and in the renal distal convoluted tubule where it is thought to contribute to a magnesium-sensing mechanism.	Outdated component (foundation metadata concept)
A form of frontotemporal dementia characterised by progressive behavioural impairment and a decline in executive function with frontal lobe-predominant atrophy.	Outdated component (foundation metadata concept)
A form of frontotemporal dementia characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.	Outdated component (foundation metadata concept)
A form of frontotemporal dementia with characteristics of agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech. Language comprehension is relatively preserved.	Outdated component (foundation metadata concept)
A form of functioning pancreatic neuroendocrine tumor characterized most commonly by a solitary, small pancreatic lesion that causes hyperinsulinemic hypoglycemia. Insulinoma can present at any age but the median age of diagnosis is in the fifth decade of life. Insulinoma is malignant in only 7-10% of cases and the most common sites of metastasis are the liver and lymph nodes. The etiology is unknown in most sporadic cases but somatic YY1 (14q32.2) variants are associated with insulinoma in some cases. Insulinoma originates in the islet beta cells that are equally distributed throughout the pancreas. When functioning, the tumor manifests with hypersecretion of insulin and consequently causes hypoglycemia. With the exception of insulinoma in MEN1, insulinoma is not hereditary.	Concept non-current
A form of functioning pancreatic neuroendocrine tumour characterised most commonly by a solitary, small pancreatic lesion that causes hyperinsulinaemic hypoglycaemia. Insulinoma can present at any age but the median age of diagnosis is in the fifth decade of life. Insulinoma is malignant in only 7-10% of cases and the most common sites of metastasis are the liver and lymph nodes. The aetiology is unknown in most sporadic cases but somatic YY1 (14q32.2) variants are associated with insulinoma in some cases. Insulinoma originates in the islet beta cells that are equally distributed throughout the pancreas. When functioning, the tumour manifests with hypersecretion of insulin and consequently causes hypoglycaemia. With the exception of insulinoma in MEN1, insulinoma is not hereditary.	Concept non-current
A form of generalised enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterised by severe platyspondyly, and mild involvement of hands and feet. It is though to be inherited as an autosomal recessive condition. Dominant pattern of inheritance has been recently suggested.	Concept non-current
A form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet. It is though to be inherited as an autosomal recessive condition. Dominant pattern of inheritance has been recently suggested.	Concept non-current
A form of hereditary nonpolyposis colon cancer characterised by concurrent presentation of a primary tumour of the central nervous system (principally glial tumours), relatively few colonic polyps, and adenomas or colorectal carcinoma.	Concept non-current
A form of hereditary nonpolyposis colon cancer characterized by concurrent presentation of a primary tumor of the central nervous system (principally glial tumors), relatively few colonic polyps, and adenomas or colorectal carcinoma.	Concept non-current
A form of hereditary spastic paraplegia with onset usually in adulthood of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.	Outdated component (foundation metadata concept)
A form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness and borderline intelligence.	Outdated component (foundation metadata concept)
A form of limb-girdle muscular dystrophy with characteristics of adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block and a sinus rhythm with very rare ventricular extrasystoles have also been reported. There is evidence this may be caused by homozygous mutation in the DES gene on chromosome 2q35.	Concept non-current
A form of lissencephaly with cerebellar hypoplasia with main features of pronounced microcephaly, intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.	Outdated component (foundation metadata concept)
A form of lissencephaly with cerebellar hypoplasia with main features of subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic feature on imaging.	Outdated component (foundation metadata concept)
A form of mitochondrial DNA depletion syndrome that displays a broad phenotypic spectrum but most often has characteristics of hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.	Outdated component (foundation metadata concept)
A form of multiple epiphyseal dysplasia manifesting as normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early onset osteoarthrosis. Specific features include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. The disease follows an autosomal dominant mode of transmission.	Outdated component (foundation metadata concept)
A form of non-spastic cerebral palsy with decreased muscle tone; noticeably "floppy" muscles with poor or no head control	Erroneous component (foundation metadata concept)
A form of peeling skin syndrome that presents with a generalised distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) forms.	Outdated component (foundation metadata concept)
A form of peeling skin syndrome that presents with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) forms.	Outdated component (foundation metadata concept)
A form of potassium-aggravated myotonia which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion. Fluctuating myotonia develops during childhood or adolescence and involves the extraocular, bulbar and limb muscles. Myotonia fluctuans is a sodium muscle channelopathy due to missense mutations of the SCN4A gene encoding the alpha subunit of the skeletal muscle voltage-gated sodium channel Nav1.4. Transmission is autosomal dominant.	Outdated component (foundation metadata concept)
A form of potassium-aggravated myotonia which shows dramatic improvement with the use of acetazolamide. Symptoms generally manifest during childhood (before 10 years old), with myotonia of the facial, limbs and/or intercostal muscles that is triggered by potassium ingestion, fasting and mildly by cold exposure and exercise. Muscle stiffness is generally painful. Acetazolamide-responsive myotonia is a sodium muscle channelopathy due to missense mutations of the SCN4A gene, encoding the alpha subunit of the skeletal muscle voltage-gated sodium channel Nav1.4. Transmission is autosomal dominant.	Outdated component (foundation metadata concept)
A form of primary progressive aphasia with characteristics of impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge.	Outdated component (foundation metadata concept)
A form of rare hereditary haemochromatosis, a group of diseases characterised by excessive tissue iron deposition of genetic origin. Type 4 is less rare than the other rare forms of hereditary haemochromatosis. The disease is phenotypically heterogeneous with two sub-types. Ferroportin disease form A is the usual form and is generally asymptomatic with no tissue damage and further complications. Ferroportin disease form B is rarer and resembles haemochromatosis type 1, but can affect children. Ferroportin disease is due to mutations in the SLC40A1 gene located on chromosome 2, which encodes for ferroportin (FPN), an iron exporter negatively regulated by the hepcidin hormone. Transmission is autosomal dominant.	Outdated component (foundation metadata concept)
A form of rare hereditary hemochromatosis, a group of diseases characterized by excessive tissue iron deposition of genetic origin. Type 4 is less rare than the other rare forms of hereditary hemochromatosis. The disease is phenotypically heterogeneous with two sub-types. Ferroportin disease form A is the usual form and is generally asymptomatic with no tissue damage and further complications. Ferroportin disease form B is rarer and resembles hemochromatosis type 1, but can affect children. Ferroportin disease is due to mutations in the SLC40A1 gene located on chromosome 2, which encodes for ferroportin (FPN), an iron exporter negatively regulated by the hepcidin hormone. Transmission is autosomal dominant.	Outdated component (foundation metadata concept)
A form of severe combined immunodeficiency with severe and recurrent infections, associated with diarrhea and failure to thrive. The disease is characterized by a lack of circulating T and NK (Natural Killer) cells and normal number of B lymphocytes. Results from a defect in the JAK3 gene encoding an intracellular tyrosine kinase, the Janus activating kinase 3 required for cytokine-mediated signalling. Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A form of severe combined immunodeficiency with severe and recurrent infections, associated with diarrhoea and failure to thrive. The disease is characterised by a lack of circulating T and NK (Natural Killer) cells and normal number of B lymphocytes. Results from a defect in the JAK3 gene encoding an intracellular tyrosine kinase, the Janus activating kinase 3 required for cytokine-mediated signalling. Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B3GALT6 with characteristics of short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, bowing of limbs and congenital or early onset, progressive kyphoscoliosis. Additional features include the typical craniofacial gestalt (prominent forehead, sparse hair, mid-face hypoplasia, blue sclerae, proptosis and abnormal dentition), hyperextensible, soft, thin, translucent and doughy skin, delayed motor and/or cognitive development, characteristic radiographic findings (spondyloepimetaphyseal dysplasia, platyspondyly, anterior beak of vertebral body, short ilia, elbow malalignment and generalised osteoporosis), joint contractures and ascending aortic aneurysm. The disorder is due to variants of the B3GALT6 gene (1p36.33), encoding for galactosyltransferase II. Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B3GALT6 with characteristics of short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, bowing of limbs and congenital or early onset, progressive kyphoscoliosis. Additional features include the typical craniofacial gestalt (prominent forehead, sparse hair, mid-face hypoplasia, blue sclerae, proptosis and abnormal dentition), hyperextensible, soft, thin, translucent and doughy skin, delayed motor and/or cognitive development, characteristic radiographic findings (spondyloepimetaphyseal dysplasia, platyspondyly, anterior beak of vertebral body, short ilia, elbow malalignment and generalized osteoporosis), joint contractures and ascending aortic aneurysm. The disorder is due to variants of the B3GALT6 gene (1p36.33), encoding for galactosyltransferase II. Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A frequent form of diazoxide-sensitive diffuse hyperinsulinism characterised by an excessive uncontrolled insulin secretion (inappropriate for the level of glycaemia), asymptomatic hyperammonaemia and recurrent episodes of profound hypoglycaemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycaemia may also occur.	Outdated component (foundation metadata concept)
A frequent form of diazoxide-sensitive diffuse hyperinsulinism characterized by an excessive uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.	Outdated component (foundation metadata concept)
A generalised onset seizure type with a myoclonic jerk leading to an atonic motor component. This type was previously called myoclonic–astatic. A seizure originating at some point within, and rapidly engaging, bilaterally distributed networks.	Nonconformance to editorial policy component (foundation metadata concept)
A generalized onset seizure type with a myoclonic jerk leading to an atonic motor component. This type was previously called myoclonic–astatic. A seizure originating at some point within, and rapidly engaging, bilaterally distributed networks.	Nonconformance to editorial policy component (foundation metadata concept)
A genetic disorder with characteristics of the appearance of numerous cysts spread throughout the liver. Women are predominantly affected and have a larger number of cysts than affected males. Cysts are undetectable early in life and usually appear after the age of 40 years. Their number and size increases with age. Symptoms depend on the mass (compression effect) some patients are asymptomatic. Liver function is usually normal. There is no portal hypertension. Extrahepatic manifestations are very rare and may include intracranial aneurysms (usually small sized and at a low risk of rupture) and mitral leaflet abnormalities. Liver cysts result from overgrowth of biliary epithelium or from dilatation of peribiliary glands. Some cases occur sporadically, but most are inherited as an autosomal dominant trait.	Outdated component (foundation metadata concept)
A genetic epileptic syndrome characterised by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life with clusters (8-10 a day) of repeated and brief episodes (2-5 minutes) over a few days. They are usually focal but can sometimes become generalised. A family history of the same epilepsy is a constant finding. The disease is genetically heterogeneous, in the majority of cases, mutations in the proline-rich transmembrane protein 2 (PRRT2) gene located at 16p11.2 have been found. Mutations have also been found in the SCN2A gene (2q24.3) encoding the brain sodium channel NaV1.2 and rarely in the KCNQ2 (20q13.33) and KCNQ3 (8q24) genes both encoding potassium channels. Additionally, three other chromosomal loci have been identified that are mapped to chromosome 19q, 16p and 1p. Transmitted as an autosomal dominant trait with incomplete penetrance.	Outdated component (foundation metadata concept)
A genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life with clusters (8-10 a day) of repeated and brief episodes (2-5 minutes) over a few days. They are usually focal but can sometimes become generalized. A family history of the same epilepsy is a constant finding. The disease is genetically heterogeneous, in the majority of cases, mutations in the proline-rich transmembrane protein 2 (PRRT2) gene located at 16p11.2 have been found. Mutations have also been found in the SCN2A gene (2q24.3) encoding the brain sodium channel NaV1.2 and rarely in the KCNQ2 (20q13.33) and KCNQ3 (8q24) genes both encoding potassium channels. Additionally, three other chromosomal loci have been identified that are mapped to chromosome 19q, 16p and 1p. Transmitted as an autosomal dominant trait with incomplete penetrance.	Outdated component (foundation metadata concept)
A genetic variant of Mendelian susceptibility to mycobacterial diseases with characteristics of a complete deficiency in interferon gamma receptor 1(IFN-gammaR1), leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin and other environmental mycobacteria. Infection is disseminated and can involve soft tissue, bone marrow, lungs, skin, bones and lymph nodes. Manifestations include fever, weight loss, hepatosplenomegaly, lymphadenopathies and lepromatous-like lesions. Caused by complete IFN-gammaR1 deficiency due to mutations in the IFNGR1 gene on chromosome 6q23-q24. Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A genetic variant of Mendelian susceptibility to mycobacterial diseases with characteristics of mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections. The prevalence is unknown. Over 140 cases have been reported in the world. Disease onset usually occurs in patients before the age of 12 with the appearance of BCG disease, usually after receiving the vaccination. Over half of patients with this variant experience an additional infection with non-typhoidal Salmonella. Caused by mutations in the IL12RB1 gene (19p13.1) subunit that encodes for the IL-12R-beta1 chain. These mutations impair the IL-12/IL-23 pathway essential for production of IFN-beta and the resulting immunity against Salmonella and BCG infections. Inherited in an autosomal recessive manner.	Outdated component (foundation metadata concept)
A genetic variant of Mendelian susceptibly to mycobacterial disease with characteristics of a complete deficiency in interferon gamma receptor 2, leading to an undetectable response to interferon gamma and consequently to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. The prevalence is unknown. Only ten children have been identified to date. This disease is caused by mutations in IFNGR2 on chromosome 21q22.1-22.2 which encodes the IFN-gamma receptor signal transducing chain, essential for IFN-gamma mediated immunity. Two clinically indistinguishable forms have been reportedly defined by the presence or absence of protein expression on the cell surface.	Erroneous component (foundation metadata concept)
A genodermatosis with characteristics of the presence of multiple hamartomas of the hair follicle. It has been described in one family so far.	Concept non-current
A group of anomalies that may result from maternal infection and subsequent fetal infection with the Herpes virus. The virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent. Pregnancy complications including preterm delivery, intrauterine growth retardation, and neonatal infection have been attributed to the Herpes virus. Exposure of the fetus to Herpes virus at the time of delivery carries a serious risk of infection for the newborn.	Outdated component (foundation metadata concept)
A group of rare central nervous system malformations with characteristics of varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i.e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies.	Outdated component (foundation metadata concept)
A group of symptoms which may be observed in the fetus or newborn when the mother has taken indomethacin, a nonsteroidal anti-inflammatory drug during pregnancy. The drug crosses the human placenta readily throughout gestation, but its effects on the embryo/fetus vary according to the stage of pregnancy.	Outdated component (foundation metadata concept)
A hand-foot malformation with characteristics of triphalangeal thumbs and pre and postaxial polydactyly, isolated syndactyly or complex polysyndactyly. It has been described in some large pedigrees. Clinical presentation is variable within families, ranging from mild to severe. Malformations of the feet are usually less severe than those of the hands. Caused by duplication encompassing the limb-specific regulatory element (ZRS) of sonic hedgehog SHH, which lies in intron 5 of the limb region 1 homolog gene, LMBR1 (7q36). This syndrome is transmitted in an autosomal dominant manner with complete penetrance and variable expression.	Outdated component (foundation metadata concept)
A hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease).	Outdated component (foundation metadata concept)
A hereditary cancer syndrome characterised by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. Disease onset can occur at any age, but is more common in young adults and elderly patients. Multiple or single benign cutaneous leiomyomas are common. Uterine leiomyomas (present in 77% of women with HLRCC), also known as fibroids, usually appear around the age of 30. Caused by a mutation in the FH gene (1q42.1) encoding the enzyme fumarate hydratase (FH) that metabolises the fumarate produced during the purine nucleotide cycle and arginine synthesis in the cytoplasm. Mode of inheritance is autosomal dominant.	Outdated component (foundation metadata concept)
A hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. Disease onset can occur at any age, but is more common in young adults and elderly patients. Multiple or single benign cutaneous leiomyomas are common. Uterine leiomyomas (present in 77% of women with HLRCC), also known as fibroids, usually appear around the age of 30. Caused by a mutation in the FH gene (1q42.1) encoding the enzyme fumarate hydratase (FH) that metabolizes the fumarate produced during the purine nucleotide cycle and arginine synthesis in the cytoplasm. Mode of inheritance is autosomal dominant.	Outdated component (foundation metadata concept)
A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with edema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant.	Outdated component (foundation metadata concept)
A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant.	Outdated component (foundation metadata concept)
A highly malignant neoplasm that can occur on the lip, oral cavity, nasal cavity, pharynx, larynx and paranasal sinuses and that accounts for 90% of all head and neck cancers, occurring most frequently in adults between the ages of 40-60. Presents with a variety of manifestations, depending on the primary site, such as voice hoarseness, dysphagia, ulceration of oral mucosa, hearing loss, epistaxis, nasal obstruction and enlargement of a cervical lymph node. Often associated with extensive invasion into surrounding tissues and a rapid metastasis to distant organs.	Outdated component (foundation metadata concept)
A histological variant of medulloblastoma, an embryonic malignancy, associated with extremely low survival rates and a high risk of metastatic disease and manifesting with symptoms of increased intracranial pressure such as vomiting, headache, listlessness, papilledema and diplopia.	Outdated component (foundation metadata concept)
A histological variant of medulloblastoma, an embryonic malignancy, associated with extremely low survival rates and a high risk of metastatic disease and manifesting with symptoms of increased intracranial pressure such as vomiting, headache, listlessness, papilloedema and diplopia.	Outdated component (foundation metadata concept)
A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.	Outdated component (foundation metadata concept)
A keratotic cutaneous polyp containing abundant connective tissue	Nonconformance to editorial policy component (foundation metadata concept)
A kyphotic deformity of the spine that develops in adolescence. The spinal deformity includes irregularities of the vertebral endplates, the presence of Schmorl's nodes, disc-space narrowing and vertebral wedging. The disease is diagnosed using lateral radiographs of the spine. The thoracic spine is most often affected, but the lumbar spine may also be involved. Analysis of the mode of inheritance in a sample of 90 pedigrees derived from the Siberian population supported an autosomal dominant mode of inheritance with complete penetrance in boys and incomplete penetrance in girls.	Outdated component (foundation metadata concept)
A large or giant congenital melanocytic naevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes and presenting with an elevated risk of malignant transformation. An LCMN is a darkly coloured, circumscribed area of the skin sometimes covered with dense hair or proliferative nodules, and/or accompanied by multiple small satellite naevi that develop at birth or during early childhood (tardive satellites). Patients with LCMN also present an elevated risk of malignant paediatric melanoma, particularly intracranial, and other neuroectodermal tumours of varying severity. LCMN is a neurocristopathy (a disorder of the development of the embryonic neural crest) but its aetiology is unknown. Familial cases have been observed, but the vast majority of LCMN cases are sporadic.	Outdated component (foundation metadata concept)
A large or giant congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes and presenting with an elevated risk of malignant transformation. An LCMN is a darkly colored, circumscribed area of the skin sometimes covered with dense hair or proliferative nodules, and/or accompanied by multiple small satellite nevi that develop at birth or during early childhood (tardive satellites). Patients with LCMN also present an elevated risk of malignant pediatric melanoma, particularly intracranial, and other neuroectodermal tumors of varying severity. LCMN is a neurocristopathy (a disorder of the development of the embryonic neural crest) but its etiology is unknown. Familial cases have been observed, but the vast majority of LCMN cases are sporadic.	Outdated component (foundation metadata concept)
A lethal malformation syndrome reported in 2 brothers of first-cousin parents with characteristics of hydrocephalus, cardiac malformation, dense bones and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984.	Outdated component (foundation metadata concept)
A life-threatening syndrome with manifestation of progressive and painful skin ulcerations associated with calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation.	Outdated component (foundation metadata concept)
A ligation where the surgical suture serves as a ligature	Grammatical description error (foundation metadata concept)
A limb girdle muscular dystrophy caused by caveolin-3 deficiency with characteristics of weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement.	Concept non-current
A limb girdle muscular dystrophy characterised by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances.	Outdated component (foundation metadata concept)
A limb girdle muscular dystrophy characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances.	Outdated component (foundation metadata concept)
A liquid dose form consisting of active substance(s) dissolved in a concentrated solution of sugar.	Outdated component (foundation metadata concept)
A liquid dose form consisting of active substance(s) in a mixture of ether and ethanol.	Outdated component (foundation metadata concept)
A liquid dose form consisting of active substance(s) in an aqueous solution.	Outdated component (foundation metadata concept)
A liquid dose form consisting of an oil-in-water emulsion.	Outdated component (foundation metadata concept)
A lymphatic system malformation with characteristics of swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphangiogenesis). It can be hereditary or not and be congenital or late onset.	Outdated component (foundation metadata concept)
A lysosomal storage disease with characteristics of coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.	Erroneous component (foundation metadata concept)
A malformation syndrome with the combination of bilateral coloboma of macula, horizontal pendular nystagmus, severe visual loss and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails, broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Inherited in a dominant manner.	Outdated component (foundation metadata concept)
A malignant tumor of the prostate with an early onset. Is either asymptomatic or causes symptoms on micturition, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents.	Outdated component (foundation metadata concept)
A malignant tumour of the prostate with an early onset. Is either asymptomatic or causes symptoms on micturition, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterised by familial antecedents.	Outdated component (foundation metadata concept)
A manipulation done by a physiatrist	Grammatical description error (foundation metadata concept)
A manipulation done by an osteopath	Erroneous component (foundation metadata concept)
A manipulation done by an osteopath.	Erroneous component (foundation metadata concept)
A mass	Concept non-current
A meal plan that offers comparable carbohydrate content from day to day at all meals and snacks. Not based on a set number of calories; intended to meet individuals' nutritional needs and facilitate improved metabolic control.	Erroneous component (foundation metadata concept)
A method of administration of a dose form by a parenteral route.	Outdated component (foundation metadata concept)
A method of administration of a dose form by dispensing.	Outdated component (foundation metadata concept)
A method of administration of a liquid dose form by introducing it into the circulatory system or into a body cavity.	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)