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 germ cell tumour characterised by composition of two or more malignant germ cell components, the most common combination being dysgerminoma and yolk sac tumour. The tumours typically occur between childhood and young adulthood. They are usually located in the gonads, occasionally also in other regions. Clinical presentation corresponds to the individual germ cell components and the tumour location; manifestations may include abdominal pain, abdominal mass, and menstrual disorder in females, and a testicular mass in males. The most important prognostic factor is tumour stage.	A component that is no longer current, useful, appropriate or acceptable.
A rare glial neoplasm with characteristics of extensive infiltration of the brain, often extending to infratentorial structures and even the spinal cord. The neoplasm is composed of elongated glial cells typically resembling astrocytes. Cases in which the predominant cell type is oligodendroglial have also been described. Some neoplasms develop a circumscribed neoplastic mass in addition to the diffuse lesion, usually showing features of high-grade glioma. Clinical symptoms include dementia, headache, seizures, signs of increased intracranial pressure and a variety of neurological deficits. Prognosis is generally poor.	A component that is no longer current, useful, appropriate or acceptable.
A rare glial tumor characterized by a grade III oligodendroglial tumor with focal or diffuse anaplastic features. It typically occurs in the supratentorial white matter. Histologically, the cells are enlarged and epithelioid with pleomorphic and increased size nuclei, a vesicular chromatin pattern and prominent nucleoli. Most patients present with seizures.	A component that is no longer current, useful, appropriate or acceptable.
A rare glial tumour characterised by a grade III oligodendroglial tumour with focal or diffuse anaplastic features. It typically occurs in the supratentorial white matter. Histologically, the cells are enlarged and epithelioid with pleomorphic and increased size nuclei, a vesicular chromatin pattern and prominent nucleoli. Most patients present with seizures.	A component that is no longer current, useful, appropriate or acceptable.
A rare glycogen storage disease with characteristics of slowly progressive myopathy with storage of polyglucosan in muscle fibers. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement.	A component that is no longer current, useful, appropriate or acceptable.
A rare glycogen storage disease with characteristics of slowly progressive myopathy with storage of polyglucosan in muscle fibres. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement.	A component that is no longer current, useful, appropriate or acceptable.
A rare glycogen storage disease with fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys and skeletal muscle involvement have been reported in some cases.	A component that is no longer current, useful, appropriate or acceptable.
A rare gonosome anomaly syndrome characterised by a eunuchoid habitus with gynaecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynaecomastia, hypogonadism, cryptorchidism, small penis and behavioural abnormalities (including solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development may also be associated.	A component that is no longer current, useful, appropriate or acceptable.
A rare gonosome anomaly syndrome characterized by a eunuchoid habitus with gynecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynecomastia, hypogonadism, cryptorchidism, small penis and behavioral abnormalities (including solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development may also be associated.	A component that is no longer current, useful, appropriate or acceptable.
A rare gonosome anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia.	A component that is no longer current, useful, appropriate or acceptable.
A rare granulomatous autoinflammatory disease with characteristics of infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation.	A component that is no longer current, useful, appropriate or acceptable.
A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogenous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.	Grammatical description error (foundation metadata concept)
A rare group of multiple congenital anomalies/dysmorphic syndrome characterized by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogenous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.	Grammatical description error (foundation metadata concept)
A rare haematologic disease characterised by high serum viscosity due to polyclonal expansion of immunoglobulins, most commonly in the context of Waldenström macroglobulinaemia, as well as a variety of disorders of immune dysregulation. Patients present with signs and symptoms involving multiple organs, such as bleeding diathesis, mucosal bleeding, retinal haemorrhage, headache, stroke, pulmonary hypertension and congestive heart failure.	A component that is no longer current, useful, appropriate or acceptable.
A rare haematologic disease characterised by symptoms of mast cell activation in the absence of cutaneous findings, as well as absence of diagnostic criteria of systemic mastocytosis with tryptase levels of less than 20 mg/ml and normal to low burden of mast cells. Bone marrow biopsy reveals the presence of monoclonal mast cells carrying the KIT D816V mutation and/or expressing CD25. Symptoms include recurrent episodes of flushing, headache, hypotension, abdominal cramping, nausea, diarrhoea, cardiac arrhythmia, bronchoconstriction and bleeding diathesis.	A component that is no longer current, useful, appropriate or acceptable.
A rare haematologic disease due to defective platelet function and characterised by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, haematoma and bleeding after tooth extraction. Massive menorrhagia and chronic anaemia have also been reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare haematological disorder, seen almost exclusively in males, characterised by moderate to severe thrombocytopenia with haemorrhages with or without the presence of mild to severe anaemia. The disease affects mainly males as females are usually asymptomatic or have only mild symptoms. It presents in infancy or in neonates (in severe cases) with patients bruising easily along with further manifestations of thrombocytopenia. The disease is caused by mutations in the GATA1 (Xp11.23) gene encoding GATA1, a transcriptional regulator involved in erythropoiesis and megakaryocytopoiesis. Different mutations found in this gene account for a variable phenotypic spectrum of disorders.	A component that is no longer current, useful, appropriate or acceptable.
A rare haemolytic anaemia characterised by a combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders and haemolytic anaemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalaemia, haemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature. There is evidence the disease is caused by heterozygous mutation in the SLC2A1 gene on chromosome 1p34.	A component that is no longer current, useful, appropriate or acceptable.
A rare haemolytic anaemia due to an erythrocyte nucleotide metabolism disorder characterised by moderate to severe chronic nonspherocytic haemolytic anaemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.	A component that is no longer current, useful, appropriate or acceptable.
A rare haemolytic anaemia with manifestations of decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated haemolysis. Pseudohyperkalaemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. Transmission is autosomal dominant.	A component that is no longer current, useful, appropriate or acceptable.
A rare haemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterised by a haemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. Inherited in an autosomal recessive manner.	A component that is no longer current, useful, appropriate or acceptable.
A rare haemorrhagic disorder due to a platelet anomaly characterised by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.	A component that is no longer current, useful, appropriate or acceptable.
A rare haemorrhagic disorder due to an acquired coagulation factor defect characterised by sudden, spontaneous, and often severe bleeding, manifesting with skin, muscle and mucous membrane haemorrhages, in persons without a previous bleeding tendency. Additional symptoms may include epistaxis, gastrointestinal and/or urogenital bleeding, spontaneous bruising, melaena and haematuria.	A component that is no longer current, useful, appropriate or acceptable.
A rare hair anomaly characterised by symmetrical, congenital or early-onset, bilateral hypertrichosis localised on the extensor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.	A component that is no longer current, useful, appropriate or acceptable.
A rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrichosis localized on the extensor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.	A component that is no longer current, useful, appropriate or acceptable.
A rare head and neck tumor characterized by a malignant epithelial neoplasm most commonly arising in the maxillary sinus or nasal cavity, occurring as a keratinizing, a non-keratinizing, or a spindle cell (sarcomatoid) type. Patients may present with nasal obstruction, epistaxis, rhinorrhea, swelling, or (at more advances stages) with facial pain and/or paralysis, diplopia and proptosis. Patients with paranasal sinus tumors present later and at a higher stage than patients with nasal cavity carcinomas. Risk factors are smoking and industrial exposures. High-risk Human papillomavirus is most frequently associated with the non-keratinizing type.	A component that is no longer current, useful, appropriate or acceptable.
A rare head and neck tumour characterised by a malignant epithelial neoplasm most commonly arising in the maxillary sinus or nasal cavity, occurring as a keratinising, a non-keratinising, or a spindle cell (sarcomatoid) type. Patients may present with nasal obstruction, epistaxis, rhinorrhoea, swelling, or (at more advances stages) with facial pain and/or paralysis, diplopia and proptosis. Patients with paranasal sinus tumours present later and at a higher stage than patients with nasal cavity carcinomas. Risk factors are smoking and industrial exposures. High-risk Human papillomavirus is most frequently associated with the non-keratinising type.	A component that is no longer current, useful, appropriate or acceptable.
A rare hematologic disease characterized by high serum viscosity due to polyclonal expansion of immunoglobulins, most commonly in the context of Waldenström macroglobulinemia, as well as a variety of disorders of immune dysregulation. Patients present with signs and symptoms involving multiple organs, such as bleeding diathesis, mucosal bleeding, retinal hemorrhage, headache, stroke, pulmonary hypertension and congestive heart failure.	A component that is no longer current, useful, appropriate or acceptable.
A rare hematologic disease characterized by symptoms of mast cell activation in the absence of cutaneous findings, as well as absence of diagnostic criteria of systemic mastocytosis with tryptase levels of less than 20 mg/ml and normal to low burden of mast cells. Bone marrow biopsy reveals the presence of monoclonal mast cells carrying the KIT D816V mutation and/or expressing CD25. Symptoms include recurrent episodes of flushing, headache, hypotension, abdominal cramping, nausea, diarrhea, cardiac arrhythmia, bronchoconstriction and bleeding diathesis.	A component that is no longer current, useful, appropriate or acceptable.
A rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematoma and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia. The disease affects mainly males as females are usually asymptomatic or have only mild symptoms. It presents in infancy or in neonates (in severe cases) with patients bruising easily along with further manifestations of thrombocytopenia. The disease is caused by mutations in the GATA1 (Xp11.23) gene encoding GATA1, a transcriptional regulator involved in erythropoiesis and megakaryocytopoiesis. Different mutations found in this gene account for a variable phenotypic spectrum of disorders.	A component that is no longer current, useful, appropriate or acceptable.
A rare hemolytic anemia characterized by a combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature. There is evidence the disease is caused by heterozygous mutation in the SLC2A1 gene on chromosome 1p34.	A component that is no longer current, useful, appropriate or acceptable.
A rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.	A component that is no longer current, useful, appropriate or acceptable.
A rare hemolytic anemia with manifestations of decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. Transmission is autosomal dominant.	A component that is no longer current, useful, appropriate or acceptable.
A rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. Inherited in an autosomal recessive manner.	A component that is no longer current, useful, appropriate or acceptable.
A rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.	A component that is no longer current, useful, appropriate or acceptable.
A rare hemorrhagic disorder due to an acquired coagulation factor defect characterized by sudden, spontaneous, and often severe bleeding, manifesting with skin, muscle and mucous membrane hemorrhages, in persons without a previous bleeding tendency. Additional symptoms may include epistaxis, gastrointestinal and/or urogenital bleeding, spontaneous bruising, melena and hematuria.	A component that is no longer current, useful, appropriate or acceptable.
A rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement.	A component that is no longer current, useful, appropriate or acceptable.
A rare hepatic and biliary tract tumour, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterised by a substantial keratinisation with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumour and symptoms of adjacent organ involvement.	A component that is no longer current, useful, appropriate or acceptable.
A rare hepatic disease characterised by the overlap of primary biliary cholangitis and/or primary sclerosing cholangitis with autoimmune hepatitis, defined by the presence of at least two of the three recognised biochemical, serological and histological criteria of each disease. The onset of the overlapping diseases can be simultaneous or sequential with a variable interval of up to several years. Age of onset, gender predisposition and clinical phenotype vary between each of the diseases. The clinical presentation ranges from asymptomatic disease or unspecific symptoms such as fatigue, arthralgia and pruritus to established cirrhosis and decompensation or also acute fulminant hepatitis and liver failure. Association with extrahepatic autoimmune diseases is common.	A component that is no longer current, useful, appropriate or acceptable.
A rare hepatic disease characterized by the overlap of primary biliary cholangitis and/or primary sclerosing cholangitis with autoimmune hepatitis, defined by the presence of at least two of the three recognized biochemical, serological and histological criteria of each disease. The onset of the overlapping diseases can be simultaneous or sequential with a variable interval of up to several years. Age of onset, gender predisposition and clinical phenotype vary between each of the diseases. The clinical presentation ranges from asymptomatic disease or unspecific symptoms such as fatigue, arthralgia and pruritus to established cirrhosis and decompensation or also acute fulminant hepatitis and liver failure. Association with extrahepatic autoimmune diseases is common.	A component that is no longer current, useful, appropriate or acceptable.
A rare hepatic disease with characteristics of graft infection with the hepatitis B virus (HBV) after liver transplantation, due to persistence and reactivation of HBV in extrahepatic sites (also despite previous clearance of the hepatitis B surface antigen from serum, as shown by laboratory examination), followed by re-invasion of the graft. It may develop between two weeks and several years post transplantation. Clinico-pathological features are variable and range from mild self-limited hepatitis, chronic active hepatitis, and fulminant hepatitis, to fibrosing cholestatic hepatitis. The condition is associated with significantly reduced graft survival rates and overall patient survival.	A component that is no longer current, useful, appropriate or acceptable.
A rare hepatic disease with characteristics of recurrence of hepatitis C virus infection after liver transplantation, leading to liver injury with features resembling those observed in the non-transplant graft, and typically developing after three months post-transplantation. The clinical course is highly variable, although patients most commonly develop progressive chronic liver disease with higher viral loads and more rapid fibrosis progression than in the immunocompetent population.	A component that is no longer current, useful, appropriate or acceptable.
A rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed. The age of onset is variable. The etiology is still unknown but it is thought to arise from Kulchitsky cells originating in the neural crest.	A component that is no longer current, useful, appropriate or acceptable.
A rare hepatic tumour that may manifest with abdominal pain or fullness, as well as diarrhoea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed. The age of onset is variable. The aetiology is still unknown but it is thought to arise from Kulchitsky cells originating in the neural crest.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary angio-oedema characterised by potentially life-threatening episodes of subcutaneous and/or submucosal oedema without urticaria, associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angio-oedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting oedema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Genital, bladder, muscle or joint swelling may occur in some cases.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria, associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angioedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Genital, bladder, muscle or joint swelling may occur in some cases.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary ataxia characterised by early onset symptomatic generalised epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary ataxia characterised by recurrent episodes of ataxia with variable frequency and duration, associated with slurred speech, generalised muscle weakness and balance disturbance. Other symptoms may occur between episodes, including intention tremor, gait ataxia, mild dysarthria, myokymia, migraine and nystagmus.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary ataxia characterized by early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary ataxia characterized by recurrent episodes of ataxia with variable frequency and duration, associated with slurred speech, generalized muscle weakness and balance disturbance. Other symptoms may occur between episodes, including intention tremor, gait ataxia, mild dysarthria, myokymia, migraine and nystagmus.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary ataxia with characteristics of an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis. Nystagmus may also be present.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary ataxia with characteristics of delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary ataxia with characteristics of delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary ataxia with characteristics of neurogenic muscular atrophy associated with signs of cerebellar ataxia, degeneration of the retina and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary ataxia with characteristics of progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions. It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary ataxia with characteristics of progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, and spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated. Caused by homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary ataxia with characteristics of simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary basal epidermolysis bullosa simplex characterised by mild, generalised trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions and bleeding, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age. There is evidence the disease can be caused by homozygous mutation in the EXPH5 gene on chromosome 11q22.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary basal epidermolysis bullosa simplex characterised by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side, and are often several centimetres big. There is evidence the disease is caused by homozygous mutation in the DST (BPAG1) gene on chromosome 6p12.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary basal epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions and bleeding, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age. There is evidence the disease can be caused by homozygous mutation in the EXPH5 gene on chromosome 11q22.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary basal epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side, and are often several centimeters big. There is evidence the disease is caused by homozygous mutation in the DST (BPAG1) gene on chromosome 6p12.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary cerebellar ataxia disorder with characteristics of late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging. There is evidence the disease is caused by homozygous mutation in the SYT14 gene on chromosome 1q32.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary cerebral malformation with epilepsy syndrome with characteristics of severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary developmental defect with connective tissue involvement and characteristics of cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary disease with peripheral neuropathy with characteristics of distal sensorimotor or motor neuropathy of the lower limbs with muscle weakness and atrophy. Some patients show overt connective tissue disease with signs and symptoms like increased skin elasticity and easy bruising (but no atrophic scarring), decreased clotting, aortic aneurysms, joint hypermobility and recurrent tendon ruptures.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary disorder with the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary familial primary hyperparathyroidism disease with characteristics of primary hyperparathyroidism due to single or multiple parathyroid tumors in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumors and/or systemic manifestations.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary familial primary hyperparathyroidism disease with characteristics of primary hyperparathyroidism due to single or multiple parathyroid tumours in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumours and/or systemic manifestations.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary gastric cancer with characteristics of proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, without duodenal or colorectal polyposis.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary haematologic disease characterised by an increase in haemoglobin, haematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnoea. In some cases, thrombophlebitis and arthralgia have also been reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary haemochromatosis characterised by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary haemolytic anaemia due to a red cell membrane anomaly characterised by fatigue, mild anaemia and pseudohyperkalaemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. There is evidence this disease is caused by heterozygous mutation in the SLC4A1 gene on chromosome 17q21.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary hematologic disease characterized by an increase in hemoglobin, hematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnea. In some cases, thrombophlebitis and arthralgia have also been reported.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. There is evidence this disease is caused by heterozygous mutation in the SLC4A1 gene on chromosome 17q21.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary immune deficiency with skin involvement characterised by early-onset cold urticaria after generalised exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease. Caused by heterozygous deletion within the PLCG2 gene on chromosome 16q23.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease. Caused by heterozygous deletion within the PLCG2 gene on chromosome 16q23.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary mitochondrial oxidative phosphorylation disorder characterised by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycaemia, dehydration, vomiting, seizures, and a risk of multiple organ failure.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary motor and sensory neuropathy disorder with characteristics of the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range. Caused by heterozygous mutation in the GNB4 gene on chromosome 3q26.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary motor and sensory neuropathy with characteristics of childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary motor and sensory neuropathy with characteristics of flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary motor and sensory neuropathy with characteristics of intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary motor and sensory neuropathy with characteristics of intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary neurologic disease with characteristics of early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary non-dystrophic myopathy with characteristics of proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported and include ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy. There is evidence the disease is caused by homozygous mutation in the MICU1 gene on chromosome 10q22.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary non-syndromic form of vitreoretinopathy with characteristics of retinal tears due to abnormal vitreous and commonly present refractive errors. No other signs or symptoms of Stickler syndrome are present. Can be caused by mutation in the COL2A1 gene.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary nonmedullary thyroid carcinoma characterised by the presence of differentiated thyroid cancer of follicular cell origin in two or more first-degree relatives, in the absence of other familial tumour syndromes or radiation exposure. Frequent capsular invasion is observed. Biopsy reveals multicentric tumours with multiple adenomatous nodules with or without oxyphilia and follicular or papillary carcinoma histology.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary nonmedullary thyroid carcinoma characterized by the presence of differentiated thyroid cancer of follicular cell origin in two or more first-degree relatives, in the absence of other familial tumor syndromes or radiation exposure. Frequent capsular invasion is observed. Biopsy reveals multicentric tumors with multiple adenomatous nodules with or without oxyphilia and follicular or papillary carcinoma histology.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary nonpolyposis colon cancer defined in individuals meeting the Amsterdam criteria for Lynch syndrome, but lacking germline mutations in the mismatch repair genes. It is characterised by a later onset, preferential involvement of distal colon and rectum, lower risk of developing extracolonic cancer, a higher adenoma/carcinoma ratio, a higher differentiation of tumour cells, a more heterogeneous tumour architecture and an infiltrative growth pattern when compared to Lynch syndrome cases.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary nonpolyposis colon cancer defined in individuals meeting the Amsterdam criteria for Lynch syndrome, but lacking germline mutations in the mismatch repair genes. It is characterized by a later onset, preferential involvement of distal colon and rectum, lower risk of developing extracolonic cancer, a higher adenoma/carcinoma ratio, a higher differentiation of tumor cells, a more heterogeneous tumor architecture and an infiltrative growth pattern when compared to Lynch syndrome cases.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary palmoplantar keratoderma with characteristics of focal hyperkeratotic lesions on the palms and soles. Histopathologic examination reveals prominent hyperkeratosis, thickened stratum spinosum with reduced stratum granulosum, dis-adhesion of cells in the suprabasal layers, elongation of rete ridges and sparse lymphocyte infiltration in the dermis.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary periodic fever syndrome with characteristics of infantile or childhood onset of episodes of fever and cold-induced urticaria-like rash and arthralgia. Ocular features such as conjunctivitis and uveitis may also be present. Presentation is typically mild and symptoms resolve without treatment in most cases.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary primary immunodeficiency characterised by recurrent respiratory tract infection, otitis media, candidiasis, diarrhoea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune haemolytic anaemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported. There is evidence the disease is caused by homozygous mutation in the TRAC gene on chromosome 14q11.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported. There is evidence the disease is caused by homozygous mutation in the TRAC gene on chromosome 14q11.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary red cell membrane defect characterised by the presence of oval-shaped erythrocytes. Most patients are asymptomatic or occasionally have mild symptoms such as pallor, jaundice, anaemia and gallstones. The disease is common in Southeast Asian and Western Pacific countries and can occur at any age. Results from a 27 bp deletion in the SLC4A1 gene, localised on chromosome 17q21.31 (SLC4A1del27 mutation). This gene codes for a band 3 anion transport protein which is the bicarbonate/chloride exchanger in red blood cell membranes and defects in this protein cause membrane rigidity. The disease follows an autosomal dominant pattern of inheritance.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes. Most patients are asymptomatic or occasionally have mild symptoms such as pallor, jaundice, anemia and gallstones. The disease is common in Southeast Asian and Western Pacific countries and can occur at any age. Results from a 27 bp deletion in the SLC4A1 gene, localized on chromosome 17q21.31 (SLC4A1del27 mutation). This gene codes for a band 3 anion transport protein which is the bicarbonate/chloride exchanger in red blood cell membranes and defects in this protein cause membrane rigidity. The disease follows an autosomal dominant pattern of inheritance.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary sensory and autonomic neuropathy characterised by congenital insensitivity to pain, general hypaesthesia, diminished temperature sensitivity and hyperhidrosis. Motor function is preserved. Skin biopsy reveals lack of cutaneous innervation except for sensory and autonomic innervation of blood vessels and sweat glands.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary sensory and autonomic neuropathy characterised by hypotonia in infancy, variable psychomotor retardation, markedly impaired pain sensitivity with poor healing. Also, distal ulcerations and painless fractures leading to joint deformities and amputation of fingers and toes, altered deep tendon reflexes and dysautonomic symptoms including hypohidrosis and heat intolerance, chronic diarrhoea, pupillary abnormalities or urinary incontinence. Sensorineural hearing loss has also been reported. The severity of the disease is highly variable with severe cases being potentially lethal in infancy.	A component that is no longer current, useful, appropriate or acceptable.
A rare hereditary sensory and autonomic neuropathy characterized by congenital insensitivity to pain, general hypesthesia, diminished temperature sensitivity and hyperhidrosis. Motor function is preserved. Skin biopsy reveals lack of cutaneous innervation except for sensory and autonomic innervation of blood vessels and sweat glands.	A component that is no longer current, useful, appropriate or acceptable.

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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)