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 Y chromosome number anomaly with a variable phenotype. The main characteristics of this disorder are moderate to severe intellectual disability, speech delay, hypotonia and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognathia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.	Outdated component (foundation metadata concept)
A rare acquired dermal elastic tissue disorder characterised by multiple, 2-3 millimetre sized, non-confluent, asymptomatic, white or pale-coloured, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region.	Outdated component (foundation metadata concept)
A rare acquired dermal elastic tissue disorder characterized by multiple, 2-3 millimeter sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region.	Outdated component (foundation metadata concept)
A rare acquired dermis elastic tissue disorder characterised by asymptomatic palpable hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant wavy, fragmented and aggregated basophilic elastic fibres in the reticular dermis.	Outdated component (foundation metadata concept)
A rare acquired dermis elastic tissue disorder characterised by multiple, asymptomatic firm well-demarcated nonfollicular hypopigmented or skin-coloured papules, with a diameter of less than 1 cm, distributed symmetrically over trunk and/or proximal limbs (rarely, head, neck, shoulders, armpits, thighs) and with no extracutaneous manifestations. Histopathology typically reveals decreased and fragmented elastic fibres, thickened and/or homogenised collagen bundles and in some a mild perivascular lymphocytic infiltrate in the dermis.	Outdated component (foundation metadata concept)
A rare acquired dermis elastic tissue disorder characterized by asymptomatic palpable hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant wavy, fragmented and aggregated basophilic elastic fibers in the reticular dermis.	Outdated component (foundation metadata concept)
A rare acquired dermis elastic tissue disorder characterized by multiple, asymptomatic firm well-demarcated nonfollicular hypopigmented or skin-colored papules, with a diameter of less than 1 cm, distributed symmetrically over trunk and/or proximal limbs (rarely, head, neck, shoulders, armpits, thighs) and with no extracutaneous manifestations. Histopathology typically reveals decreased and fragmented elastic fibers, thickened and/or homogenized collagen bundles and in some a mild perivascular lymphocytic infiltrate in the dermis.	Outdated component (foundation metadata concept)
A rare acquired dermis elastic tissue disorder with characteristics of a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits.	Outdated component (foundation metadata concept)
A rare acquired dermis elastic tissue disorder with decreased elastic tissue characterised by multiple, asymptomatic, well demarcated, flat, hypopigmented atrophic macular skin lesions distributed over upper trunk and proximal upper limbs. Histopathological examination reveals atrophic epidermis with decreased basal pigmentation, perivascular mononuclear infiltration in the upper dermis, and disorganised, hyalinised, coarse collagen bundles and variable loss of elastic fibres in the dermis.	Outdated component (foundation metadata concept)
A rare acquired dermis elastic tissue disorder with decreased elastic tissue characterized by multiple, asymptomatic, well demarcated, flat, hypopigmented atrophic macular skin lesions distributed over upper trunk and proximal upper limbs. Histopathological examination reveals atrophic epidermis with decreased basal pigmentation, perivascular mononuclear infiltration in the upper dermis, and disorganized, hyalinized, coarse collagen bundles and variable loss of elastic fibers in the dermis.	Outdated component (foundation metadata concept)
A rare acquired disorder with characteristics of unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved. Usually presents during the first 20 years of life and may start with alopecia, hair hypopigmentation, and atrophy. May extend to the upper lip and or one side of the tongue and the masticatory muscles, resulting in deviation of the nose and or mouth toward the affected side. Rarely both sides of the face and the skin on the arms/trunk/leg or the entire body may be involved. Autoimmunity may be a cause along with facial or head trauma, meningoencephalitis, abnormal development or hyperactivity of the sympathetic nervous system, neuro-vasculitis, angiogenesis anomalies, and slow viral infections. Sporadic but rare familial cases have been reported.	Outdated component (foundation metadata concept)
A rare acquired eye disease due to long-term exposure to chloroquine or hydroxychloroquine with characteristics of slowly progressive usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.	Outdated component (foundation metadata concept)
A rare acquired eye disease due to long-term exposure to chloroquine or hydroxychloroquine with characteristics of slowly progressive usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced colour vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.	Outdated component (foundation metadata concept)
A rare acquired eye disease due to long-term exposure to chloroquine or hydroxychloroquine with slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.	Concept non-current
A rare acquired eye disease due to long-term exposure to chloroquine or hydroxychloroquine with slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced colour vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.	Concept non-current
A rare acquired eye disease with characteristics of progressive visual loss due to bilateral juxta foveolar capillary occlusions, capillary telangiectasia and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease.	Outdated component (foundation metadata concept)
A rare acquired eye disease with characteristics of unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates.	Outdated component (foundation metadata concept)
A rare acquired eye disease with characteristics of unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular oedema with hard exudates.	Outdated component (foundation metadata concept)
A rare acquired eye disease with characteristics of unilateral or bilateral abnormal fluid accumulation within the suprachoroidal space. This results in internal choroidal elevation in the absence of any known cause such as decreased intraocular tension, intraocular neoplasm, intraocular inflammation or nanophthalmos. Patients typically present a protracted, relapsing-remitting course of visual acuity loss and fundus examination shows annular celio-choroidal detachment and shifting, serous retinal detachment.	Outdated component (foundation metadata concept)
A rare acquired idiopathic dermal tissue disorder characterised by numerous asymptomatic 2-3 millimetre yellowish, non-follicular papules that tend to converge into cobblestone-like plaques. The plaques are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike pseudoxanthoma elasticum, these skin lesions show select elimination (absence or marked loss) of elastic fibres in the papillary dermis and there is no systemic involvement.	Outdated component (foundation metadata concept)
A rare acquired idiopathic dermal tissue disorder characterized by numerous asymptomatic 2-3 millimeter yellowish, non-follicular papules that tend to converge into cobblestone-like plaques. The plaques are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike pseudoxanthoma elasticum, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement.	Outdated component (foundation metadata concept)
A rare acquired immunodeficiency disease with characteristics of adult-onset absolute neutrophil counts less than 1.5 x 10^9/L on at least 3 occasions in a 3 month period that cannot be attributable to drugs or a specific genetic, infectious, inflammatory, autoimmune or malignant cause. Recurrent apthous stomatitis and a history of mild bacterial infections are typically associated. A benign outcome with a low rate of severe infections and no secondary malignancies is observed.	Outdated component (foundation metadata concept)
A rare acquired localised lipodystrophy disorder characterised by the eruption of tender occasionally painful, erythematous nodules and plaques, which enlarge radially and resolve into lipoatrophic lesions, often located in the upper and lower limbs. Histologically lesions are characterised by lipophagic lobular panniculitis and absence of vasculitis.	Outdated component (foundation metadata concept)
A rare acquired localized lipodystrophy disorder characterized by the eruption of tender occasionally painful, erythematous nodules and plaques, which enlarge radially and resolve into lipoatrophic lesions, often located in the upper and lower limbs. Histologically lesions are characterized by lipophagic lobular panniculitis and absence of vasculitis.	Outdated component (foundation metadata concept)
A rare acquired motor neuron disease with characteristics of a slowly progressive unilateral ascending or descending hemiplegia, associated with unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and controversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations are characteristics of the disease.	Outdated component (foundation metadata concept)
A rare acquired neurological disease with characteristics of encephalopathy associated with elevated antithyroid antibodies, in the absence of other causes. Clinical presentation varies from minor cognitive impairment to status epilepticus and coma, and frequently includes seizures, confusion, speech disorder, memory impairment, ataxia and psychiatric manifestations.	Outdated component (foundation metadata concept)
A rare acquired neuromuscular disease characterised by CAV3 mutation-negative rippling muscle disease in association with acetylcholine receptor antibody-mediated myasthenia gravis. Patients typically present exercise-induced, electrically silent muscle rippling with myalgia, in combination with generalised myasthenia gravis symptoms (ptosis, diplopia, neck weakness, dysphagia and dyspnoea).	Outdated component (foundation metadata concept)
A rare acquired neuromuscular disease characterized by CAV3 mutation-negative rippling muscle disease in association with acetylcholine receptor antibody-mediated myasthenia gravis. Patients typically present exercise-induced, electrically silent muscle rippling with myalgia, in combination with generalized myasthenia gravis symptoms (ptosis, diplopia, neck weakness, dysphagia and dyspnea).	Outdated component (foundation metadata concept)
A rare acquired non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic haemapoietic stem cell transplantation. Characterised by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated.	Outdated component (foundation metadata concept)
A rare acquired non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation. Characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated.	Outdated component (foundation metadata concept)
A rare acquired ocular disease with characteristics of migratory or non-migratory horizontal linear stromal infiltrates that may heal spontaneously. Minimal vascularisation and scarring may be observed but vision loss is not associated.	Outdated component (foundation metadata concept)
A rare acquired ocular disease with characteristics of migratory or non-migratory horizontal linear stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated.	Outdated component (foundation metadata concept)
A rare acquired peripheral neuropathy disease with characteristics of progressive oropharyngeal (facial palsy, dysarthria) and cervicobrachial weakness, associated with upper limb weakness and hypo/areflexia in the absence of ophthalmoplegia, ataxia, altered consciousness, and prominent lower limb weakness. The presence of monospecific IgG anti-GT1a antibodies is associated.	Outdated component (foundation metadata concept)
A rare acquired peripheral neuropathy with characteristics of paresis of the supraspinatus, infraspinatus, deltoid and biceps muscles (in C5-C6 injury), wrist and finger extensor muscles (C7 injury), or impaired hand function (C8-Th1 injury) on the affected side due to a traction lesion of the brachial plexus during delivery. The upper trunk of the brachial plexus is most commonly affected, while isolated injury to the lower trunk is very rare. Potential sequelae of brachial plexus injury are muscle atrophy, pain, sensory deficits and secondary deformities.	Outdated component (foundation metadata concept)
A rare acquired peripheral neuropathy with characteristics of progressive, involuntary, irregular, clonic or tonic contractions of the muscles innervated by the facial nerve (cranial nerve VII). The symptoms are typically strictly unilateral, mostly persist during sleep, and often occur in the region of the orbicularis oculi muscle first and gradually spread to other parts of the affected half of the face as the disease progresses.	Outdated component (foundation metadata concept)
A rare acquired peripheral neuropathy with characteristics of symptoms arising from combined overactivity in cranial nerves, without any explanatory structural lesion. The symptoms may be unilateral or bilateral, may occur synchronously or metachronously and include trigeminal neuralgia, hemifacial spasm and glossopharyngeal neuralgia.	Outdated component (foundation metadata concept)
A rare acquired pituitary hormone deficiency a type of primary hypophysitis with characteristics of inflammation of anterior pituitary. Clinical presentation is variable and includes headaches, visual disturbances, and symptoms of adrenal insufficiency, hyperprolactinaemia, hypothyroidism and hypogonadism. It most commonly affects young women during pregnancy or postpartum period.	Outdated component (foundation metadata concept)
A rare acquired pituitary hormone deficiency a type of primary hypophysitis with characteristics of inflammation of anterior pituitary. Clinical presentation is variable and includes headaches, visual disturbances, and symptoms of adrenal insufficiency, hyperprolactinemia, hypothyroidism and hypogonadism. It most commonly affects young women during pregnancy or postpartum period.	Outdated component (foundation metadata concept)
A rare acquired pituitary hormone deficiency a type of primary hypophysitis with characteristics of inflammation of the entire pituitary gland. Common clinical presentation is diabetes insipidus with polyuria and polydipsia and partial or panhypopituitarism. Other symptoms may include headaches, nausea/vomiting, visual disturbances and fatigue.	Outdated component (foundation metadata concept)
A rare acquired pituitary hormone deficiency characterised by combination of headache, visual field defects that correlate with cyst size and pituitary dysfunction. Most frequent hormonal manifestations are hypogonadism with amenorrhoea/impotence or low libido and galactorrhoea.	Outdated component (foundation metadata concept)
A rare acquired pituitary hormone deficiency characterised by the presence of rare benign tumour in the sellar region. Clinical presentation is either acute or insidious and is variable according to the cyst location, size and potential rupture. Most commonly patients present with headache, visual disturbances and pituitary dysfunction.	Outdated component (foundation metadata concept)
A rare acquired pituitary hormone deficiency characterized by combination of headache, visual field defects that correlate with cyst size and pituitary dysfunction. Most frequent hormonal manifestations are hypogonadism with amenorrhea/impotence or low libido and galactorrhea.	Outdated component (foundation metadata concept)
A rare acquired pituitary hormone deficiency characterized by the presence of rare benign tumor in the sellar region. Clinical presentation is either acute or insidious and is variable according to the cyst location, size and potential rupture. Most commonly patients present with headache, visual disturbances and pituitary dysfunction.	Outdated component (foundation metadata concept)
A rare acquired pituitary hormone deficiency with characteristics of secondary adrenal insufficiency with normal secretion of anterior pituitary hormones, except for adrenocorticotropic hormone (ACTH). Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycaemia and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described.	Outdated component (foundation metadata concept)
A rare acquired pituitary hormone deficiency with characteristics of secondary adrenal insufficiency with normal secretion of anterior pituitary hormones, except for adrenocorticotropic hormone (ACTH). Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described.	Outdated component (foundation metadata concept)
A rare acquired pituitary hormone deficiency, a type of primary hypophysitis characterised by an inflammation of the posterior pituitary and the stalk. The major clinical manifestation is diabetes insipidus with polyuria and polydipsia. Less frequent symptoms are headaches, adrenal insufficiency, hyperprolactinaemia and hypogonadism.	Outdated component (foundation metadata concept)
A rare acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of the posterior pituitary and the stalk. The major clinical manifestation is diabetes insipidus with polyuria and polydipsia. Less frequent symptoms are headaches, adrenal insufficiency, hyperprolactinemia and hypogonadism.	Outdated component (foundation metadata concept)
A rare acquired retinal disorder with characteristics of transient or permanent visual impairment accompanied by the presence of reddish-brown, wedge-shaped lesions in the macula, the apices of which tend to point towards the fovea. The lesions usually appear in a petaloid or tear-drop configuration. Patients tend to be young, Caucasian and female.	Outdated component (foundation metadata concept)
A rare acquired retinal disorder with characteristics of unilateral acute onset rapidly progressive visual field loss. Sometimes patients have photopsia and complain of floaters. Typical ophthalmoscopic finding is a unilateral, yellowish-white annular intraretinal line, splitting the retinal field to affected outer retina with thinning and normal retina. Gradual spontaneous visual recovery has been observed.	Outdated component (foundation metadata concept)
A rare acquired skin disease characterised by benign proliferation of mature plasma cells with a typical triad of cutaneous lesions, polyclonal hypergammaglobulinaemia and superficial lymphadenopathy without an apparent underlying cause. The skin lesions consist of multiple round-to-oval, red-to-dark-brown macules, papules and plaques most commonly found on the trunk but also the face, neck, and axilla.	Outdated component (foundation metadata concept)
A rare acquired skin disease characterized by benign proliferation of mature plasma cells with a typical triad of cutaneous lesions, polyclonal hypergammaglobulinemia and superficial lymphadenopathy without an apparent underlying cause. The skin lesions consist of multiple round-to-oval, red-to-dark-brown macules, papules and plaques most commonly found on the trunk but also the face, neck, and axilla.	Outdated component (foundation metadata concept)
A rare acquired subepidermal autoimmune bullous disease with characteristics of polymorphic cutaneous lesions (blisters, urticarial lesions or scars/milia) associated with immunoglobulin G deposition in the basement membrane zone. Lesions are frequently localised on extremities, trunk, palmoplantar and cephalic areas as well as mucous membranes. The disease predominantly affects elderly people. The exact aetiology is unknown but may be related to laminin gamma-1, consistent with the identified characteristics of the p200 protein (an acidic non-collagenous N-linked glycoprotein localised within the lower lamina lucida outside of hemidesmosomes).	Outdated component (foundation metadata concept)
A rare acquired subepidermal autoimmune bullous disease with characteristics of polymorphic cutaneous lesions (blisters, urticarial lesions or scars/milia) associated with immunoglobulin G deposition in the basement membrane zone. Lesions are frequently localized on extremities, trunk, palmoplantar and cephalic areas as well as mucous membranes. The disease predominantly affects elderly people. The exact etiology is unknown but may be related to laminin gamma-1, consistent with the identified characteristics of the p200 protein (an acidic non-collagenous N-linked glycoprotein localized within the lower lamina lucida outside of hemidesmosomes).	Outdated component (foundation metadata concept)
A rare acute leukaemia of ambiguous lineage characterised by clonal proliferation of primitive haematopoietic cells, primarily in the bone marrow and blood, lacking lineage-specific markers and detectable genotypic alterations. The patient presents with leucocytosis, anaemia, variable platelet count and a variety of nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (lymphadenopathy, splenomegaly, hepatomegaly).	Outdated component (foundation metadata concept)
A rare acute leukemia of ambiguous lineage characterized by clonal proliferation of primitive hematopoietic cells, primarily in the bone marrow and blood, lacking lineage-specific markers and detectable genotypic alterations. The patient presents with leukocytosis, anemia, variable platelet count and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (lymphadenopathy, splenomegaly, hepatomegaly).	Outdated component (foundation metadata concept)
A rare aggressive B-cell non-Hodgkin lymphoma with characteristics of rearrangement in MYC and BCL2 and/or BCL6 (so-called double-hit or triple-hit lymphoma). The category includes double-hit cases with features intermediate between diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma, blastoid cases with a double-hit, and cases with a DLBCL not otherwise specified morphology with a double-hit. It refers only to de novo cases, not to lymphomas with a history of pre-existing or coexistent indolent lymphoma. Patients typically present with widespread disease, including involvement of lymph nodes, bone marrow and central nervous system.	Outdated component (foundation metadata concept)
A rare aggressive malignant epithelial carcinoma of the esophagus characterized, macroscopically, by an exophytic mass with central ulceration located on the esophagus and histologically by a sheet-like growth of neoplastic cells without significant glandular, squamous or neuroendocrine differentiation. Patients may present with progressive dysphagia, long-standing history of gastroesophageal reflux, weight loss, anemia, abdominal or chest pain/pressure, dyspnea, and/or hematemesis. Presence or history of Barrett esophagus is frequently associated.	Outdated component (foundation metadata concept)
A rare aggressive malignant epithelial carcinoma of the oesophagus characterised, macroscopically, by an exophytic mass with central ulceration located on the oesophagus and histologically by a sheet-like growth of neoplastic cells without significant glandular, squamous or neuroendocrine differentiation. Patients may present with progressive dysphagia, long-standing history of gastrooesophageal reflux, weight loss, anaemia, abdominal or chest pain/pressure, dyspnoea, and/or haematemesis. Presence or history of Barrett oesophagus is frequently associated.	Outdated component (foundation metadata concept)
A rare aggressive malignant hepatic tumor arising from the hepatocytes. It develops mainly in children over 10 years of age, either in a cirrhotic background, or more commonly in a non-cirrhotic background. The main presenting manifestations are abdominal mass with pain, swelling and discomfort, weight loss, and anorexia. Splenomegaly, nausea, vomiting and jaundice are less commonly observed. Metastases to the mediastinal lymph nodes, lungs, brain and bone marrow are common in advanced disease May be associated with congenital diseases such as biliary atresia. The Wnt/beta-catenin pathway is frequently activated via stabilizing mutations in beta-catenin: some patients have been found to have mutations in the CTNNB1 (3p21) and MET (7q31) genes. TP53 (17p13.1) gene and the TERT promoter are mutated in 25-30% and 60% of cases respectively.	Outdated component (foundation metadata concept)
A rare aggressive malignant hepatic tumour arising from the hepatocytes. It develops mainly in children over 10 years of age, either in a cirrhotic background, or more commonly in a non-cirrhotic background. The main presenting manifestations are abdominal mass with pain, swelling and discomfort, weight loss, and anorexia. Splenomegaly, nausea, vomiting and jaundice are less commonly observed. Metastases to the mediastinal lymph nodes, lungs, brain and bone marrow are common in advanced disease May be associated with congenital diseases such as biliary atresia. The Wnt/beta-catenin pathway is frequently activated via stabilising mutations in beta-catenin: some patients have been found to have mutations in the CTNNB1 (3p21) and MET (7q31) genes. TP53 (17p13.1) gene and the TERT promoter are mutated in 25-30% and 60% of cases respectively.	Outdated component (foundation metadata concept)
A rare aggressive neoplastic disease with the presence of a melanocyte neoplasm that develops in any mucosal membrane. Clinical manifestations vary depending on the site of occurrence.	Outdated component (foundation metadata concept)
A rare aggressive primary cervical neoplasm originating from neuroendocrine cells present in the lining epithelium of the cervix. Macroscopic characteristics are usually large lesions sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent.	Outdated component (foundation metadata concept)
A rare aggressive subtype of invasive breast carcinoma characterised by rapid growth, relatively large tumour size and a tendency to metastasize to distant organs, particularly the lungs, with relatively less frequent involvement of the axillary lymph nodes. Histologically, the tumour shows high-grade cellularity and heterologous differentiation, including chondroid, osseous, pleomorphic/sarcomatoid, spindled, and squamous elements. Patients usually present with a fast-growing, large, well-circumscribed, mobile lump in the breast, which can become painful and involve the chest wall and the skin, leading to ulceration.	Outdated component (foundation metadata concept)
A rare aggressive subtype of invasive breast carcinoma characterized by rapid growth, relatively large tumor size and a tendency to metastasize to distant organs, particularly the lungs, with relatively less frequent involvement of the axillary lymph nodes. Histologically, the tumor shows high-grade cellularity and heterologous differentiation, including chondroid, osseous, pleomorphic/sarcomatoid, spindled, and squamous elements. Patients usually present with a fast-growing, large, well-circumscribed, mobile lump in the breast, which can become painful and involve the chest wall and the skin, leading to ulceration.	Outdated component (foundation metadata concept)
A rare aggressive subtype of renal cell carcinoma characterised by a large, white or tan, firm, infiltrative tumour with microabscess-like foci centred in the renal medulla, typically presenting with haematuria, abdominal/flank pain, weight loss and fever. It is associated with sickle cell trait and disease and metastasis to the bones and lungs is common at time of diagnosis.	Outdated component (foundation metadata concept)
A rare aggressive subtype of renal cell carcinoma characterized by a large, white or tan, firm, infiltrative tumor with microabscess-like foci centered in the renal medulla, typically presenting with hematuria, abdominal/flank pain, weight loss and fever. It is associated with sickle cell trait and disease and metastasis to the bones and lungs is common at time of diagnosis.	Outdated component (foundation metadata concept)
A rare and aggressive glial neoplasm of the central nervous system that usually presents with seizures in adults. The neoplasm is most often located in the cerebral hemispheres and is associated with a very poor prognosis.	Outdated component (foundation metadata concept)
A rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures.	Outdated component (foundation metadata concept)
A rare and benign but locally aggressive fibrovascular tumour arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures.	Outdated component (foundation metadata concept)
A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, with features of bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints. Manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short stature and brachydactyly has been reported in a few patients with the disorder.	Outdated component (foundation metadata concept)
A rare and highly aggressive malignant type of choroid plexus neoplasm occurring almost exclusively in children. The disease presents with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydrocephalus and increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, seizures and enlarged head circumference.	Outdated component (foundation metadata concept)
A rare and isolated orofacial defect with manifestation of incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.	Outdated component (foundation metadata concept)
A rare and severe chronic disease characterised by recurrent chronic eczema mainly affecting seborrhoeic areas, a generalised fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression.	Concept non-current
A rare and severe chronic disease characterized by recurrent chronic eczema mainly affecting seborrheic areas, a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression.	Concept non-current
A rare and severe disorder of urea cycle metabolism most commonly characterised by either a neonatal-onset of severe hyperammonaemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonaemia. The disease is due to mutations in the CPS1 gene (2p) that encodes carbamoyl-phosphate synthetase I (CPS1), an enzyme located in the mitochondrial matrix of hepatocytes and epithelial cells of intestinal mucosa that controls the first step of the urea cycle where ammonia is converted into carbamoyl-phosphate. Mutations in this gene lead to an interruption in the urea cycle and excess nitrogen is not converted to urea for excretion by the kidneys, leading to hyperammonemia. Inherited in an autosomal recessive manner.	Outdated component (foundation metadata concept)
A rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia. The disease is due to mutations in the CPS1 gene (2p) that encodes carbamoyl-phosphate synthetase I (CPS1), an enzyme located in the mitochondrial matrix of hepatocytes and epithelial cells of intestinal mucosa that controls the first step of the urea cycle where ammonia is converted into carbamoyl-phosphate. Mutations in this gene lead to an interruption in the urea cycle and excess nitrogen is not converted to urea for excretion by the kidneys, leading to hyperammonemia. Inherited in an autosomal recessive manner.	Outdated component (foundation metadata concept)
A rare anomaly of puberty or/and menstrual cycle with characteristics of recurrent fevers (higher than 38 degrees Celsius) associated with the luteal phase of the menstrual cycle in women.	Outdated component (foundation metadata concept)
A rare anomaly with characteristics of fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour. It has been described only once in several members of a single family from Canada. The abnormality resulted in a strong pectoral girdle with lack of mobility. Movements requiring rotation or retraction of the scapula were limited, but this does not normally interfere with daily activities.	Outdated component (foundation metadata concept)
A rare anomaly with characteristics of progressive, asymmetrical, non-neoplastic overgrowth of a mandibular condyle. It is unilateral in most cases and leads to progressive facial asymmetry, mandibular deviation, articular dysfunction and dental malocclusion.	Outdated component (foundation metadata concept)
A rare anterior segment developmental anomaly without extraocular manifestations with characteristics of predominant iris and lens abnormalities, including iris hypoplasia, iris transillumination defects, ectropion uveae, corectopia, iridodonesis with ectopia lentis, and cataracts, with bilateral involvement. Increased intraocular pressure is absent in most patients.	Outdated component (foundation metadata concept)
A rare arthrogryposis syndrome with characteristics of arthrogryposis multiplex congenita with contractures involving multiple joints of the upper and lower limbs, camptodactyly of fingers and toes, skeletal abnormalities such as scoliosis and pectus excavatum, as well as variable speech and motor delay and hypotonia. Facial dysmorphism includes long eyelashes, periorbital fullness, ptosis, epicanthal folds, high arched/cleft palate and micrognathia.	Outdated component (foundation metadata concept)
A rare association of malformations described in only three patients including two siblings. The first patient had profound intellectual deficit and clinical features including short stature, coarse face, deep-set eyes, microphthalmia, large ears, gynoid obesity, imperforate anus, sacral spina bifida, pseudovaginal perineoscrotal hypospadias, persistence of Mullerian structures, and low gonadotrophin levels. His XY sibling was raised as a girl, was slightly mentally impaired and had microphthalmia and large ears and short stature. The third patient had severe hearing loss, ocular colobomata, hypogonadism of central origin, distinct craniofacial features and skeletal anomalies with cervical spina bifida, hyperkyphosis and thoracic deformity. All patients had a normal 46, XY karyotype. Inheritance could be either autosomal recessive or X-linked.	Outdated component (foundation metadata concept)
A rare association syndrome, reported in several members of two families to date with characteristics of arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved, in association with cystic medial necrosis and multiple lentigines.	Outdated component (foundation metadata concept)
A rare auto inflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare life-threatening complication.	Outdated component (foundation metadata concept)
A rare autoinflammatory syndrome with characteristics of episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold. There is evidence the disease is caused by heterozygous mutation in the NLRP12 gene on chromosome 19q13.	Outdated component (foundation metadata concept)
A rare autosomal anomaly due to the presence of an extra copy of chromosome 4 in a fraction of all cells with a variable phenotype. Typical characteristics are intrauterine growth retardation, low birth weight/length/head circumference, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posterior rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.	Outdated component (foundation metadata concept)
A rare autosomal anomaly syndrome with a highly variable phenotype and typical characteristics of short length, joint abnormalities (for example dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (including microcephaly, a high prominent narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise.	Outdated component (foundation metadata concept)
A rare autosomal dominant autoinflammatory syndrome characterised by early onset systemic inflammation with autoimmune manifestations and more rarely, humoral immune deficiency and increased production of circulating proinflammatory cytokines. Variable manifestations include recurrent oral aphthous ulcers, genital ulcers, arthralgia or arthritis, periodic fever, uveitis and severe gastrointestinal involvement (pain, diarrhoea, vomiting, rectal bleeding).	Outdated component (foundation metadata concept)
A rare autosomal dominant autoinflammatory syndrome characterized by early onset systemic inflammation with autoimmune manifestations and more rarely, humoral immune deficiency and increased production of circulating proinflammatory cytokines. Variable manifestations include recurrent oral aphthous ulcers, genital ulcers, arthralgia or arthritis, periodic fever, uveitis and severe gastrointestinal involvement (pain, diarrhea, vomiting, rectal bleeding).	Outdated component (foundation metadata concept)
A rare autosomal dominant cerebellar ataxia type I disorder with characteristics of late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.	Outdated component (foundation metadata concept)
A rare autosomal dominant cerebellar ataxia type III disorder with characteristics of adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.	Outdated component (foundation metadata concept)
A rare autosomal dominant cerebellar ataxia with characteristics of pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor.	Outdated component (foundation metadata concept)
A rare autosomal dominant cerebellar ataxia with characteristics of slowly progressive late-onset cerebellar ataxia variably combined with sensory axonal neuropathy. Patients may present gait and limb ataxia, dysarthria, abnormal oculomotor function and distal sensory impairment. Cerebellar atrophy is typically mild or absent.	Outdated component (foundation metadata concept)
A rare autosomal dominant cerebellar ataxia with characteristics of slowly progressive late-onset gait and limb ataxia, dysarthria and variable nystagmus. Brain imaging reveals cerebellar atrophy.	Outdated component (foundation metadata concept)
A rare autosomal dominant condition characterised by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphoedema of the lower limbs and mild to moderate intellectual disability. The exact prevalence is not known but the disorder is thought to be rare. The microcephaly is primary, and the severity is variable even within families. Mild to moderate learning difficulties are common. A characteristic facial phenotype including up slanting palpebral fissures, broad nose with rounded tip, anteverted nares, long philtrum with thin upper lip, and prominent chin and ears is well recognised. There is likely to be genetic heterogeneity. However, a significant proportion of cases are caused by mutations in the kinesin family member 11 (KIF11) gene (10q24.1). Inheritance is autosomal dominant with variable expression and reduced penetrance.	Outdated component (foundation metadata concept)
A rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs and mild to moderate intellectual disability. The exact prevalence is not known but the disorder is thought to be rare. The microcephaly is primary, and the severity is variable even within families. Mild to moderate learning difficulties are common. A characteristic facial phenotype including up slanting palpebral fissures, broad nose with rounded tip, anteverted nares, long philtrum with thin upper lip, and prominent chin and ears is well recognized. There is likely to be genetic heterogeneity. However, a significant proportion of cases are caused by mutations in the kinesin family member 11 (KIF11) gene (10q24.1). Inheritance is autosomal dominant with variable expression and reduced penetrance.	Outdated component (foundation metadata concept)
A rare autosomal dominant disorder with features of aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying manifestations from infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.	Outdated component (foundation metadata concept)
A rare autosomal dominant distal hereditary motor neuropathy disease characterised by muscle weakness and wasting predominantly affecting the hands, in particular the thenar and first dorsal interosseus muscles, and/or marked foot deformity and gait disturbance. Sensation is normal, although reduced response to vibration has been described. The disease is slowly progressive with an age of onset within the first few decades of life.	Grammatical description error (foundation metadata concept)
A rare autosomal dominant distal hereditary motor neuropathy disease characterized by muscle weakness and wasting predominantly affecting the hands, in particular the thenar and first dorsal interosseus muscles, and/or marked foot deformity and gait disturbance. Sensation is normal, although reduced response to vibration has been described. The disease is slowly progressive with an age of onset within the first few decades of life.	Grammatical description error (foundation metadata concept)
A rare autosomal dominant distal hereditary motor neuropathy disease with characteristics of muscle weakness and wasting predominantly affecting the hands, in particular the thenar and first dorsal interosseus muscles, and/or marked foot deformity and gait disturbance. Sensation is normal, although reduced response to vibration has been described. The disease is slowly progressive with an age of onset within the first few decades of life.	Outdated component (foundation metadata concept)
A rare autosomal dominant distal hereditary motor neuropathy with characteristics of onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable and both lower and upper extremities may be involved.	Outdated component (foundation metadata concept)

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Reference Sets

Reference set descriptor

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