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 disease with three inherited morbidities; idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition is associated with 100% mortality.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder characterised by haemolytic anaemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. Several mutations have been identified in the gene encoding glutathione synthetase, localised to chromosome 20q11.2. Transmission is autosomal recessive.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder characterised by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Dysmorphic features include large, protruding, abnormally modelled ears and broad nasal root. Microcephaly and syndactyly of second and third toes have also been recorded. All patients have severe intellectual deficiency. The condition is transmitted as an autosomal recessive trait.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder characterised by the combination of autoimmune intestinal disease, epileptic seizures and cerebral calcifications. Coeliac disease and epilepsy manifest at a variable age. Coeliac disease can present in a typical form with onset in the first 2 years of life. Coeliac disease may also present in silent or latent forms, which are characterised in the absence of gastrointestinal symptoms, by dermatitis herpetiformis, dental enamel defects or autoimmune thyroiditis. Epilepsy onset is between infancy and adulthood. Most patients present with occipital epileptic seizures, the course being highly variable, with benign, drug-resistant, or epileptic encephalopathy forms. It is not known if epilepsy and/or cerebral calcifications are a consequence of coeliac disease. This syndrome is associated with the HLA-DQ2 and HLA-DQ8 genes.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. Several mutations have been identified in the gene encoding glutathione synthetase, localized to chromosome 20q11.2. Transmission is autosomal recessive.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Dysmorphic features include large, protruding, abnormally modeled ears and broad nasal root. Microcephaly and syndactyly of second and third toes have also been recorded. All patients have severe intellectual deficiency. The condition is transmitted as an autosomal recessive trait.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder characterized by the combination of autoimmune intestinal disease, epileptic seizures and cerebral calcifications. Celiac disease and epilepsy manifest at a variable age. Celiac disease can present in a typical form with onset in the first 2 years of life. Celiac disease may also present in silent or latent forms, which are characterized in the absence of gastrointestinal symptoms, by dermatitis herpetiformis, dental enamel defects or autoimmune thyroiditis. Epilepsy onset is between infancy and adulthood. Most patients present with occipital epileptic seizures, the course being highly variable, with benign, drug-resistant, or epileptic encephalopathy forms. It is not known if epilepsy and/or cerebral calcifications are a consequence of celiac disease. This syndrome is associated with the HLA-DQ2 and HLA-DQ8 genes.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder leading to a deficiency of complex I of the respiratory chain with characteristics of neurological dysfunction, hepatic failure and cardiomyopathy. Caused by a mutation in the ACAD9 gene (3q21.3) that encodes the protein ACAD9. This protein has only relatively recently been described but is quite widely expressed in tissues and has activity as an acyl-CoA dehydrogenase with overlapping substrate specificity with very long-chain acyl-CoA dehydrogenase (VLCAD). It also acts an assembly factor for complex I of the respiratory chain and therefore has a vital role in the production of a functioning mitochondrial respiratory chain. The mode of inheritance is autosomal recessive.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder of branched-chain amino acid metabolism with characteristics of childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. Caused by homozygous mutation in the BCKDK gene on chromosome 16p11.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder of iron metabolism and transport characterised by elevated serum ferritin levels, increased serum iron, increased transferrin saturation and heavy iron deposition in hepatocytes. Iron deposition has also been indicated in heart and bone marrow, while haematological examination of peripheral blood shows no abnormalities.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder of iron metabolism and transport characterized by elevated serum ferritin levels, increased serum iron, increased transferrin saturation and heavy iron deposition in hepatocytes. Iron deposition has also been indicated in heart and bone marrow, while hematological examination of peripheral blood shows no abnormalities.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder of lysine and hydroxylysine metabolism characterised by variable clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioural disorders, most commonly attention deficit hyperactivity disorder. Frequently individuals are completely without clinical phenotype. There is evidence the disease is caused by compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity disorder. Frequently individuals are completely without clinical phenotype. There is evidence the disease is caused by compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder of mineral absorption and transport characterised by hypocupraemia that manifests as failure to thrive, mild anaemia, repeated seizures, hypotonia and seborrhoeic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder of ornithine metabolism with characteristics of global developmental delay, alopecia, macrocephaly and dysmorphic facial features (including high and broad forehead, hypertelorism, ptosis, blepharophimosis, downslanting palpebral fissures, deep-set eyes, large ears and retrognathia or high arched palate). Additional reported manifestations are sensorineural hearing loss, spasticity, hypotonia, hypoplastic nails, cryptorchidism and clinodactyly among others. Brain imaging may show white matter abnormalities, periventricular cysts, enlarged lateral ventricles, or prominent perivascular spaces.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder of pentose phosphate metabolism with characteristics of developmental delay and intellectual disability, delayed or absent speech, short stature and congenital heart defects (such as ventricular septal defect, atrial septal defect and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behavior, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment and variable facial dysmorphism among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate).	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder of pentose phosphate metabolism with characteristics of developmental delay and intellectual disability, delayed or absent speech, short stature and congenital heart defects (such as ventricular septal defect, atrial septal defect and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behaviour, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment and variable facial dysmorphism among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate).	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder of plasmalogen biosynthesis with characteristics of syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation, short stature and spastic quadriparesis. Dysmorphic facial features may be present, including high-arched eyebrows, flattened nasal root, hypertelorism and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy, white matter abnormalities and Dandy-Walker malformation have been described on brain imaging.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder of porphyrin and haem metabolism characterised by infantile or childhood onset of severe cutaneous photosensitivity in affected males, presenting as tingling, burning, and itching within minutes of light exposure, often accompanied by swelling and redness of the skin. Pain may persist for hours or days after the initial reaction. Some patients show hepatic involvement and gallstone formation. Laboratory examination reveals increased levels of zinc and metal-free protoporphyrin. The phenotype in heterozygous females ranges from asymptomatic to severe.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder of porphyrin and heme metabolism characterized by infantile or childhood onset of severe cutaneous photosensitivity in affected males, presenting as tingling, burning, and itching within minutes of light exposure, often accompanied by swelling and redness of the skin. Pain may persist for hours or days after the initial reaction. Some patients show hepatic involvement and gallstone formation. Laboratory examination reveals increased levels of zinc and metal-free protoporphyrin. The phenotype in heterozygous females ranges from asymptomatic to severe.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder of sex development (DSD) characterised by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype. The cause is not elucidated for the majority of cases. A small proportion of individuals have a translocation of a Y chromosome fragment, including the SRY gene, to an X or another chromosome but most individuals (65%) are SRY negative. Some individuals may have a chromosomal mosaicism or a chimerism that results in the presence of Y chromosome containing cells in the gonad. The majority of cases arise as de novo gene variants.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype. The cause is not elucidated for the majority of cases. A small proportion of individuals have a translocation of a Y chromosome fragment, including the SRY gene, to an X or another chromosome but most individuals (65%) are SRY negative. Some individuals may have a chromosomal mosaicism or a chimerism that results in the presence of Y chromosome containing cells in the gonad. The majority of cases arise as de novo gene variants.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and has characteristics of ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol and low basal and stimulated androgen levels.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder of the anterior segment of the eye with characteristics of the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia and secondary angle-closure glaucoma.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder with characteristics of congenital hypothyroidism, infant respiratory distress syndrome and benign hereditary chorea. Prevalence is unknown but to date about 50 cases have been reported in the literature.The clinical spectrum varies from the complete triad of brain-lung-thyroid syndrome (50%), to brain and thyroid disease (30%), or isolated benign hereditary chorea (13%), which is the mildest expression of the syndrome. In addition, the severity of symptoms varies widely, even in families with the same disease-causing mutation. Brain-lung-thyroid syndrome is caused by mutations in the thyroid transcription factor 1 gene (NKX2-1/TITF1; 14q13.3).	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder with characteristics of neurological problems and neutropenia. Onset of symptoms is in early childhood and severity varies widely among affected individuals. In the most severely affected individuals, features are apparent in infancy and sometimes at birth. Associated with congenital cataracts or cataracts in infancy. The disease is caused by mutations in the CLPB gene which is likely to reduce or eliminate the amount of functional CLPB protein. The severity of the disease may be related to the amount of functional protein that remains. Inherited in an autosomal recessive pattern.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder with characteristics of pseudohypertrophy of muscles due to longstanding hypothyroidism. Prevalence is unknown. The syndrome usually presents between 18 months and 10 years but has been reported at earlier ages including during the neonatal period. Patients present with clinical features of hypothyroidism, including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice. Pseudohypertrophy involves the muscles of the extremities, limb girdle, trunk, hands and feet but is more prominent in the limbs, resulting in an athletic appearance. Hypothyroidism, or thyroid hormone deficiency, may be congenital and may be permanent or transient.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder with characteristics of sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding. Most commonly, the condition is detected in investigating a fortuitous finding of hypersplenism or splenomegaly. Main histopathologic findings are periportal fibrosis, occlusion of small portal veins, sclerosis of the portal venous system, and proliferation of small vascular channels within/around portal tracts. The disease is slowly progressive. Exposure to toxic substances or drugs, autoimmune and connective tissue diseases, systemic or intraabdominal infections, and clotting abnormalities have been incriminated. A genetic background has been suggested.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder with manifestation of hypo or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients are born with multiple teeth. Hair anomalies (sparse body and scalp hair) also reported. Inheritance is autosomal dominant.	A component that is no longer current, useful, appropriate or acceptable.
A rare disorder with multisystemic involvement and glomerulopathy with characteristics of progressive steroid-resistant nephrotic syndrome typically associated with focal segmental glomerulosclerosis, as well as primary adrenal insufficiency with adrenal calcifications. Age of onset and disease course are variable, with some cases presenting as severe fetal hydrops, while most patients present in infancy or early childhood and progress to end-stage renal disease within a few years. Additional features include ichthyosis, primary hypothyroidism, hypogonadism, immunodeficiency and neurological manifestations (such as cognitive impairment, ataxia, sensorineural hearing loss, or seizures).	A component that is no longer current, useful, appropriate or acceptable.
A rare distal arthrogryposis syndrome with characteristics of multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature. There is evidence this disease is caused by heterozygous mutation in the MYH3 gene on chromosome 17p13.	A component that is no longer current, useful, appropriate or acceptable.
A rare distal hereditary motor neuropathy with a variable clinical phenotype and typical characteristics of congenital, non-progressive, predominantly distal lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordosis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated.	A component that is no longer current, useful, appropriate or acceptable.
A rare distal hereditary motor neuropathy with characteristics of slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.	A component that is no longer current, useful, appropriate or acceptable.
A rare dysostosis syndrome with characteristics of abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It may also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.	A component that is no longer current, useful, appropriate or acceptable.
A rare dysostosis syndrome with characteristics of vertical median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations. The syndrome manifests with highly variable craniofacial features which include hypertelorism, eyelid coloboma, orbital dystopia, epibulbar dermoid, nasal anomalies (for example wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated.	A component that is no longer current, useful, appropriate or acceptable.
A rare dystonia with a combination of hemidystonia involving one half of the body and hemiatrophy on the same side. Hemidystonia which is sustained and repetitive muscle contractions resulting in abnormal movements or posture involving a single side of the body is preceded in 90% of cases by hemiparesis with a marked improvement before the onset of hemidystonia. Pyramidal syndrome and seizures may also be observed. The syndrome is associated with ipsilateral somatic atrophy. Common causes are childbirth or perinatal complications, delayed sequelae of stroke or head trauma. This syndrome should be differentiated from other causes of primary dystonia or dystonia secondary to inherited disorders or neurodegenerative diseases.	A component that is no longer current, useful, appropriate or acceptable.
A rare dystrophic epidermolysis bullosa (DEB) characterised by generalised blistering, milia formation, atrophic scarring, and dystrophic nails. Caused by mutations in the collagen VII gene (COL7A1; 3p21.31) that lead to an alteration of function or a reduction in the amount of collagen VII. The molecular defect impairs collagen VII assembly into anchoring fibrils which fix the basement membrane to the underlying dermis, causing reduced skin resistance to minor trauma. Transmission is autosomal dominant.	A component that is no longer current, useful, appropriate or acceptable.
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails. Caused by mutations in the collagen VII gene (COL7A1; 3p21.31) that lead to an alteration of function or a reduction in the amount of collagen VII. The molecular defect impairs collagen VII assembly into anchoring fibrils which fix the basement membrane to the underlying dermis, causing reduced skin resistance to minor trauma. Transmission is autosomal dominant.	A component that is no longer current, useful, appropriate or acceptable.
A rare ectodermal dysplasia syndrome characterised by severe generalised hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including naevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.	A component that is no longer current, useful, appropriate or acceptable.
A rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.	A component that is no longer current, useful, appropriate or acceptable.
A rare ectodermal dysplasia syndrome to date described in 8 cases. The syndrome has characteristics of early-onset migratory ichthyosiform dermatosis, bilateral ocular coloboma, conductive hearing loss, seizures, intellectual disability and characteristic facial features. Ears are low-set with thick over-folded helices. Teeth are widely spaced and square in shape. Less constant findings are cleft palate or a less severe equivalent, cardiac defects, pectus excavatum and supernumerary nipples. Caused by mutations in the glycosylphosphatidylinositol gene PIGL located to 17p12-p11.2. Transmission is autosomal recessive.	A component that is no longer current, useful, appropriate or acceptable.
A rare ectodermal dysplasia syndrome with characteristics of dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.	A component that is no longer current, useful, appropriate or acceptable.
A rare ectodermal dysplasia syndrome with characteristics of hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare ectodermal dysplasia syndrome with characteristics of linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism and body asymmetry, in association with ocular, dental and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia and microstomia. Brain imaging may show cystic leucoencephalopathy and ventricular dilation.	A component that is no longer current, useful, appropriate or acceptable.
A rare ectodermal dysplasia syndrome with characteristics of linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism and body asymmetry, in association with ocular, dental and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation.	A component that is no longer current, useful, appropriate or acceptable.
A rare ectodermal dysplasia syndrome with characteristics of tricho and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachycardia or sinus bradycardia.	A component that is no longer current, useful, appropriate or acceptable.
A rare endocrine disease characterised by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organisation), selective absence of pituitary luteinising hormone in otherwise normal brain and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycaemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988.	A component that is no longer current, useful, appropriate or acceptable.
A rare endocrine disease characterised by early onset of polycythaemia, and later occurring multiple paraganglioma. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism.	A component that is no longer current, useful, appropriate or acceptable.
A rare endocrine disease characterised by neonatal hypoglycaemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma adrenocorticotropic hormone (ACTH) and cortisol levels in the absence of structural pituitary defects. Low partial growth hormone deficiency is sometimes associated.	A component that is no longer current, useful, appropriate or acceptable.
A rare endocrine disease characterised by severe chronic hypernatraemic dehydration caused by decreased intake of water based on impaired thirst perception due to a selective defect in hypothalamic osmoregulation of thirst. Structural hypothalamic lesions are absent and arginine vasopressin secretion is normal.	A component that is no longer current, useful, appropriate or acceptable.
A rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988.	A component that is no longer current, useful, appropriate or acceptable.
A rare endocrine disease characterized by early onset of polycythemia, and later occurring multiple paraganglioma. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism.	A component that is no longer current, useful, appropriate or acceptable.
A rare endocrine disease characterized by neonatal hypoglycemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma adrenocorticotropic hormone (ACTH) and cortisol levels in the absence of structural pituitary defects. Low partial growth hormone deficiency is sometimes associated.	A component that is no longer current, useful, appropriate or acceptable.
A rare endocrine disease characterized by severe chronic hypernatremic dehydration caused by decreased intake of water based on impaired thirst perception due to a selective defect in hypothalamic osmoregulation of thirst. Structural hypothalamic lesions are absent and arginine vasopressin secretion is normal.	A component that is no longer current, useful, appropriate or acceptable.
A rare endocrine disease with characteristics of the appearance of transient hypothyroidism usually in preterm newborns following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid function in term neonates.	A component that is no longer current, useful, appropriate or acceptable.
A rare endocrine disease with characteristics of the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. There is evidence this disease is caused by heterozygous mutation in the WFS1 gene on chromosome 4p16.	A component that is no longer current, useful, appropriate or acceptable.
A rare entity usually diagnosed by echocardiography. It may be limited to one of the four valves but can also involve the two atrioventricular valves and the two semilunar valves. May be the hallmark of genetic anomalies. Chromosomal anomalies should be searched when polyvalvular dysplasia is found in a fetus, namely trisomy 18 and trisomy 13. Triscuspid valve dysplasia can be the only cardiac finding in trisomy 21 and a karyotype analysis should be performed in all fetuses exhibiting this anomaly. In the absence of chromosomal anomalies, polyvalvular dysplasia can be observed in Noonan syndrome. Thickening of the different cardiac valves can be observed in various storage diseases such as mucopolysaccharidoses. In these later conditions, it develops after the neonatal period and is frequently associated with extracardiac symptoms suggestive of the diagnosis.	A component that is no longer current, useful, appropriate or acceptable.
A rare epidermal disease characterised by the association of punctate acrokeratoderma with a pigmentary disorder. Patients present skin-coloured keratotic papules on the hands and feet and pronounced hyperkeratosis of the palms and soles. Freckle-like pigmentation on the dorsal surfaces of the hands and feet is also reported. Histological examination reveals no fragmentation of dermal elastic tissue.	A component that is no longer current, useful, appropriate or acceptable.
A rare epidermal disease characterized by the association of punctate acrokeratoderma with a pigmentary disorder. Patients present skin-colored keratotic papules on the hands and feet and pronounced hyperkeratosis of the palms and soles. Freckle-like pigmentation on the dorsal surfaces of the hands and feet is also reported. Histological examination reveals no fragmentation of dermal elastic tissue.	A component that is no longer current, useful, appropriate or acceptable.
A rare epilepsy syndrome characterised by late-onset (after 1 year old) epileptic spasms that occur in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behaviour problems are frequently present. EEG is characterised by a temporal or temporofrontal slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.	A component that is no longer current, useful, appropriate or acceptable.
A rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that occur in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal or temporofrontal slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.	A component that is no longer current, useful, appropriate or acceptable.
A rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or asymmetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits.	A component that is no longer current, useful, appropriate or acceptable.
A rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or asymmetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioural arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioural changes and memory deficits.	A component that is no longer current, useful, appropriate or acceptable.
A rare epilepsy syndrome with characteristics of recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances.	A component that is no longer current, useful, appropriate or acceptable.
A rare epilepsy syndrome with characteristics of recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioural disturbances.	A component that is no longer current, useful, appropriate or acceptable.
A rare epithelial carcinoma arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland. The disease has characteristics of nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (for example primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor.	A component that is no longer current, useful, appropriate or acceptable.
A rare epithelial tumor of the colon arising from squamous cells of the colorectal epithelium without the presence of squamous-lined fistulous tracts or a proximal extension of an anal squamous cell carcinoma. It usually presents with nonspecific symptoms, such as anorexia, weight loss, abdominal pain, changes of bowel habits, hematochezia or melena. Cases of severe symptomatic hypercalcemia have been reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare epithelial tumor of the exocrine pancreas, histologically characterized by presence of keratinization and/or intracellular bridges and lympho vascular and perineural invasion, as well as high metastatic potential. Presents with upper abdominal and back pain, anorexia, weight loss, nausea, vomiting and jaundice.	A component that is no longer current, useful, appropriate or acceptable.
A rare epithelial tumor of the pancreas with histological characteristics of columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas. Clinically, small tumors (less than 3 centimeters) are usually asymptomatic while large tumors typically present obstructive jaundice, a palpable abdominal mass, and may associate portal hypertension, hemobilia and diabetes mellitus.	A component that is no longer current, useful, appropriate or acceptable.
A rare epithelial tumor of the rectum, arising from squamous cells in the rectal epithelium, without the presence of squamous-lined fistulous tracts in the rectum or a proximal extension of squamous cell carcinoma of anal or gynecological origin. The reported symptoms are often nonspecific, such as anorexia, weight loss, lower abdominal pain, rectal bleeding and changes of bowel habits.	A component that is no longer current, useful, appropriate or acceptable.
A rare epithelial tumor of the stomach that lacks any features of differentiation beyond an epithelial phenotype. The presenting symptoms are usually vague and nonspecific, such as weight loss, anorexia, fatigue, epigastric pain and discomfort, heartburn and nausea, vomiting or hematemesis. Patients may also be asymptomatic. Ascites, jaundice, intestinal obstruction and peripheral lymphadenopathy indicate advanced stages and metastatic spread.	A component that is no longer current, useful, appropriate or acceptable.
A rare epithelial tumor of the stomach, defined histopathologically as keratinizing cell masses with pearl formation, mosaic pattern of cell arrangement, intercellular bridges and high concentrations of sulphydryl or disulphide bonds, arising directly from gastric mucosa, without esophageal involvement. It is characterized by preferential location in the upper third of the stomach, high probability of lympho vascular and serosal invasion and late onset of clinical symptoms associated with poor prognosis including nonspecific symptoms of abdominal pain, dysphagia, vomiting, melena or hematochezia, hematemesis and weight loss.	A component that is no longer current, useful, appropriate or acceptable.
A rare epithelial tumour of the colon arising from squamous cells of the colorectal epithelium without the presence of squamous-lined fistulous tracts or a proximal extension of an anal squamous cell carcinoma. It usually presents with nonspecific symptoms, such as anorexia, weight loss, abdominal pain, changes of bowel habits, haematochezia or melaena. Cases of severe symptomatic hypercalcaemia have been reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare epithelial tumour of the exocrine pancreas, histologically characterised by presence of keratinisation and/or intracellular bridges and lympho vascular and perineural invasion, as well as high metastatic potential. Presents with upper abdominal and back pain, anorexia, weight loss, nausea, vomiting and jaundice.	A component that is no longer current, useful, appropriate or acceptable.
A rare epithelial tumour of the pancreas with histological characteristics of columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localised to the body or tail of the pancreas. Clinically, small tumours (less than 3 centimetres) are usually asymptomatic while large tumours typically present obstructive jaundice, a palpable abdominal mass, and may associate portal hypertension, haemobilia and diabetes mellitus.	A component that is no longer current, useful, appropriate or acceptable.
A rare epithelial tumour of the rectum, arising from squamous cells in the rectal epithelium, without the presence of squamous-lined fistulous tracts in the rectum or a proximal extension of squamous cell carcinoma of anal or gynaecological origin. The reported symptoms are often nonspecific, such as anorexia, weight loss, lower abdominal pain, rectal bleeding and changes of bowel habits.	A component that is no longer current, useful, appropriate or acceptable.
A rare epithelial tumour of the stomach that lacks any features of differentiation beyond an epithelial phenotype. The presenting symptoms are usually vague and nonspecific, such as weight loss, anorexia, fatigue, epigastric pain and discomfort, heartburn and nausea, vomiting or haematemesis. Patients may also be asymptomatic. Ascites, jaundice, intestinal obstruction and peripheral lymphadenopathy indicate advanced stages and metastatic spread.	A component that is no longer current, useful, appropriate or acceptable.
A rare epithelial tumour of the stomach, defined histopathologically as keratinising cell masses with pearl formation, mosaic pattern of cell arrangement, intercellular bridges and high concentrations of sulphydryl or disulphide bonds, arising directly from gastric mucosa, without oesophageal involvement. It is characterised by preferential location in the upper third of the stomach, high probability of lympho vascular and serosal invasion and late onset of clinical symptoms associated with poor prognosis including nonspecific symptoms of abdominal pain, dysphagia, vomiting, melaena or haematochezia, haematemesis and weight loss.	A component that is no longer current, useful, appropriate or acceptable.
A rare evolutive vascular malformation disorder characterised by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral haemorrhages. To date, mutations in three genes have been demonstrated; KRIT1, CCM2 and PDCD10, located on chromosome 7q21.2, 7p13, and 3q26.1 respectively, which encode proteins that, among their various functions, modulate junction formation between vascular endothelial cells. Transmitted as an autosomal dominant trait with incomplete penetrance.	A component that is no longer current, useful, appropriate or acceptable.
A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. To date, mutations in three genes have been demonstrated; KRIT1, CCM2 and PDCD10, located on chromosome 7q21.2, 7p13, and 3q26.1 respectively, which encode proteins that, among their various functions, modulate junction formation between vascular endothelial cells. Transmitted as an autosomal dominant trait with incomplete penetrance.	A component that is no longer current, useful, appropriate or acceptable.
A rare extraskeletal chondroma located in the head and neck region with typical histological characteristics of lobules of mature, adult hyaline cartilage with chondrocytic cells identifiable in lacunae and prominent fibrosis. Malignant transformation has not been described.	A component that is no longer current, useful, appropriate or acceptable.
A rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema and raised intraocular pressure are also remarkable manifestations.	A component that is no longer current, useful, appropriate or acceptable.
A rare eye tumour characterised by a white, grey or yellow-coloured cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye colour, hyphema and raised intraocular pressure are also remarkable manifestations.	A component that is no longer current, useful, appropriate or acceptable.
A rare familial dilated cardiomyopathy with characteristics of left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.	A component that is no longer current, useful, appropriate or acceptable.
A rare familial partial lipodystrophy with characteristics of adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinaemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.	A component that is no longer current, useful, appropriate or acceptable.
A rare familial partial lipodystrophy with characteristics of adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.	A component that is no longer current, useful, appropriate or acceptable.
A rare familial partial lipodystrophy with characteristics of adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidaemia, eyelid xanthelasma, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axilla and neck, hirsutism, and muscular hypertrophy of the lower limbs. Caused by heterozygous mutation in the PPARG gene on chromosome 3p25.	A component that is no longer current, useful, appropriate or acceptable.
A rare familial partial lipodystrophy with characteristics of adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasma, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axilla and neck, hirsutism, and muscular hypertrophy of the lower limbs. Caused by heterozygous mutation in the PPARG gene on chromosome 3p25.	A component that is no longer current, useful, appropriate or acceptable.
A rare familial partial lipodystrophy with characteristics of severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. Additional manifestations include diabetes, acanthosis nigricans, liver steatosis and hypertriglyceridaemia, as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare familial partial lipodystrophy with characteristics of severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. Additional manifestations include diabetes, acanthosis nigricans, liver steatosis and hypertriglyceridemia, as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare familial skeletal dysplasia with characteristics of multiple epiphyseal dysplasia with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family. A mutation in PTHR1 gene is responsible for this syndrome. Transmission is autosomal recessive.	A component that is no longer current, useful, appropriate or acceptable.
A rare fatal amyloid disease in young people caused by a mutation in cystatin C. This condition predisposes towards intracerebral haemorrhage and dementia and is inherited in a dominant pattern.	Concept non-current
A rare fatal amyloid disease in young people caused by a mutation in cystatin C. This condition predisposes towards intracerebral hemorrhage and dementia and is inherited in a dominant pattern.	Concept non-current
A rare fatal inborn error of metabolism disorder with characteristics of respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34.	A component that is no longer current, useful, appropriate or acceptable.
A rare fibro-osseous lesion of the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Multiple dense lobulated bone lesions often symmetrical are located in various regions of the jaw and can be seen on radiological examination.	A component that is no longer current, useful, appropriate or acceptable.
A rare flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms such as fever, headache, generalised maculopapular rash, myalgia, arthralgia and, occasionally eschar, lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss and signs of meningitis) and pulmonary compromise.	A component that is no longer current, useful, appropriate or acceptable.
A rare flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, occasionally eschar, lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss and signs of meningitis) and pulmonary compromise.	A component that is no longer current, useful, appropriate or acceptable.
A rare focal skeletal dysostosis with characteristics of symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. Approximately 10 patients have been reported so far. Additional skeletal abnormalities may include hypoplasia of the clavicles, ribs, femora and fibula, together with spina bifida and prominent lumbar lordosis. Eye anomalies (coloboma of iris and retina) have occasionally been reported. Intelligence is described as normal. Pelvis-shoulder dysplasia seems to be a genetically heterogeneous disorder but no causative genes have been identified so far.	A component that is no longer current, useful, appropriate or acceptable.
A rare form of PCH with clinical manifestation neonatally of hypotonia and impaired swallowing and from infancy onward seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3. To date, PCH3 is reported in only 3 families. In 2 families, an implication of locus 7q11-21 has been demonstrated. PCH3 is inherited in an autosomal recessive manner.	A component that is no longer current, useful, appropriate or acceptable.
A rare form of agammaglobulinaemia, a primary immunodeficiency disease, characterised by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhoea. Caused by homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32.	Grammatical description error (foundation metadata concept)

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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)