1292992004: Component annotation with string value reference set (foundation metadata concept)

SNOMED CT Concept\SNOMED CT Model Component\Foundation metadata concept (foundation metadata concept)\Reference set\Component annotation with string value reference set (foundation metadata concept)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2023. Module: SNOMED CT model component module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

5276957018 Component annotation with string 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)

5276958011 Component annotation with string value reference set en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT model component module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Component annotation with string value reference set (foundation metadata concept)	Is a	Reference set	true	Inferred relationship	Some

Members	languageDialectCode	typeId	value
A rare cardiac condition characterized by acute severe right ventricular failure with subsequent hemodynamic instability following a cardiac surgical procedure. Predisposing factors include suboptimal myocardial protection during surgery, long cardiopulmonary bypass time, right ventricular myocardial ischemia or infarction, atrial arrhythmias, reperfusion lung injury with secondary pulmonary hypertension, post-operative pulmonary micro- or macro-embolism, and pre-existing pulmonary vascular disease, among others.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare potentially lethal intoxication with characteristics of life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension and sudden death.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
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 patients present 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).	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (myopathic stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, microgenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A very rare tumor of the intestine, originating from the epithelium of the anal canal (including the mucosal surface, anal glands, and lining of fistulous tracts), macroscopically appearing as a nodular, often ulcerated, invasive mass located in the anal canal. Patients often present with rectal bleeding, as well as difficulty and pain during defecation. Inguinal lymphadenopathy, if present, usually indicates metastatic spread.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare hepatic and biliary tract tumor characterized by a growth pattern resembling that found in hepatocellular carcinomas and cholangiocarcinomas but presenting atypical histological and immunohistochemical features (such as trabecular, organoid, microcystic and/or blastemal-like architecture and inhibin A, cytokeratin 7 and/or cytokeratin 19 positivity) that do not allow a formal diagnosis of the more common aforementioned liver cancers. Patients may present abdominal distension and pain, a palpable abdominal mass and elevated liver enzymes.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, locally invasive or malignant, urogenital tumor characterized by a gland-forming epithelial neoplasm arising from paratesticular structures, typically manifesting with a palpable scrotal mass, with or without hydrocele, and/or testicular pain.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
An extremely rare penile epithelial neoplasm, histologically composed of nests of epithelial cells floating in lakes of extracellular, PAS-positive mucin, clinically characterized by a nonhealing ulcer or soft mass in the preputium or glans area, with itching and burning often preceding appearance of the lesion. Lymphadenopathy may indicate dissemination. Mucinous metaplasia of the penis may be a risk factor.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of anterior pituitary. Clinical presentation is variable and includes headaches, visual disturbances, symptoms of adrenal insufficiency, hyperprolactinemia, hypothyroidism and hypogonadism. It most commonly affects young women during pregnancy or postpartum period.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare viral disease characterized by invasive and/or disseminated adenovirus infection in immunocompromised patients, either acquired de novo or arising from reactivation of persistent latent infection. The clinical picture comprises a wide range of manifestations including pneumonia, colitis, hepatitis, hemorrhagic cystitis, tubulointerstitial nephritis, encephalitis, and disseminated disease, among others. Severity varies with age and immune status, and life-threatening courses may occur.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare autosomal recessive distal myopathy characterized by slowly progressive diffuse muscle weakness in childhood, followed by predominantly distal muscle weakness in adolescence, and quadriceps muscle weakness in the fourth decade. Facial muscle weakness is commonly reported. Muscle biopsy shows fiber size variation, increased internal nuclei, fiber splitting, rimmed vacuoles, and focal endomysial fibrosis.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
An extremely rare genetic endocrine disease characterised by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, acquired immunodeficiency disease characterized by 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.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic, renal disease characterized by the association of familial adult medullary cystic disease with spastic quadriparesis. There have been no further descriptions in the literature since 1990.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare disorder that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare carcinoma of the liver characterized by one to several or many nodules occurring anywhere within the liver, composed of neoplastic epithelial cells with hepatocellular differentiation. The vast majority of tumors are associated with chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumor, as well as to the underlying condition. Common manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. Symptomatic tumors generally have poor prognosis.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare familial hyperinsulinism characterized by postprandial hyperinsulinemic hypoglycemia, negative 72-hour fasts, negative preoperative localization studies for insulinoma, and positive selective arterial calcium infusion tests. Histopathological analysis reveals diffuse islet hyperplasia with increased number and size of islet cells.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare acquired aplastic anaemia characterised by a severe normocytic anaemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoiesis and megakaryopoiesis. It presents with signs of severe anaemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnoea) in the absence of haemorrhagic symptoms.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic, macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (e.g. horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic, isolated dystonia characterized by adult-onset, non-progressive, focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare acquired immunodeficiency disorder characterised by the appearance of susceptibility to disseminated opportunistic infections (in particular, disseminated nontuberculous mycobacterial infection, salmonellosis, penicillosis, and varicella zoster virus infection) in previously healthy (HIV-negative) adults, associated with the presence of acquired autoantibodies to interferon gamma. Typical clinical manifestation includes lymphadenopathy (cervical or generalised), fever, weight loss and/or reactive skin lesions.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare idiopathic inflammatory myopathy (IIM) with a heterogeneous phenotype characterized by myositis with at least one clinical and/or autoantibody overlap feature. Possible clinical overlap features include polyarthritis, Raynaud's phenomenon, sclerodactyly, scleroderma (proximal to metacarpophalangeal joints), lung interstitial pneumonia, and/or clinical signs of systemic lupus erythematosus (SLE).	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare genetic neurological disorder characterised by congenital or early-onset sensorineural deafness and adult-onset progressive leucoencephalopathy. Progressive cognitive impairment and behavioural abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare syndromic agammaglobulinaemia characterised by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinaemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth. The condition is fatal in the neonatal period. There have been no further descriptions in the literature since 1978.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophrys, large eyes) and optic atrophy have been observed.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around a hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerized tomography.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare urogenital tract malformation characterized by the complete absence of the scrotal rugae in the perineum between the penis and anus, with bilateral testes being present in a cryptorchid or ectopic position. Hemiscrotal agenesis refers to the unilateral absence of scrotal skin with an intact midline raphe and ipsilateral cryptorchidism. Both malformations may be isolated findings, or occur in association with other anomalies.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, aggressive form of advanced systemic mastocytosis (advSM) characterized by massive infiltration of mast cells (MC) in different tissues and presence of extracutaneous organ dysfunction, but without evidence of mast cell leukemia or another hematologic neoplasm.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
An X-linked recessive retinal disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare disorder characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare genetic gastroenterological disease characterized by severe, refractory intestinal inflammation with mucosal erosions and ulcerations potentially involving the small and large intestine. Epithelioid granulomas are typically absent. Patients present with severe diarrhea, abdominal pain, vomiting, rectal bleeding, and weight loss.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe brain malformations associated with cerebral parenchymal underdevelopment, arthrogryposis and club feet due to mutations in KIAA1109 gene. Majority of the cases are early lethal. Milder cases may present with severe global developmental delay, intellectual disability, microcephaly, hydrocephaly, heart defects, renal problems, severe muscle hypotonia causing incapacity to stand without a support, epilepsy, syndactyly and variable dysmorphic facial features (including hypotelorism, hypertelorism, small eyes, low-set and posteriorly rotated ears, short nose, flattened nasal bridge, anteverted nares, retrognathia).	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare multiple congenital anomalies syndrome characterized by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare primary immunodeficiency disorder characterized by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinemia or incomplete antibody deficiency syndrome), manifesting with recurrent infections. There have been no further descriptions in the literature since 1976.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic, epilepsy syndrome characterized by congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic, neuro-endocrino-cutaneous disorder characterised by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynaecomastia, microcephaly and kyphoscoliosis.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, genetic, alpha-crystallinopathy disease characterized by adult-onset myofibrillar myopathy, variably associated with cardiomyopathy and/or posterior polar cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopathy changes.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare constitutional hemolytic anemia that is characterized by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair including marked circumareolar hypertrichosis). There have been no further descriptions in the literature since 1989.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A genetically heterogeneous autosomal recessive syndrome characterised by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungual hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrimal punctum may be occasionally absent. There have been no further descriptions in the literature since 1975.	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	Inserm Orphanet
American Joint Committee on Cancer R0 (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer R1 (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer R2 (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer RX (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer allowable value	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM0 (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM0(i+) (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1 (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1a (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1a(0) (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1a(1) (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1b (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1b(0) (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1b(1) (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1c (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1c(0) (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1c(1) (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1c1 (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
cM1c2 (AJCC)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1d (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1d(0) (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1d(1) (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cN0 (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cN0(i+) (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cN0a (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cN0b (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cN1 (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cN1a (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cN1b (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cN1c (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cN1mi (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cN2 (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cN2a (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cN2b (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cN2c (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cN2mi (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cN3 (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cN3a (qualifier value)	en	Attributed to a particular organization or group that contributes content to SNOMED CT.	American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging

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Reference Sets

Reference set descriptor

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Id	Description	Lang	Type	Status	Case?	Module
5276957018	Component annotation with string 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)
5276958011	Component annotation with string value reference set	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)