| Members |
languageDialectCode |
typeId |
value |
| Acute myeloid leukemia with CCAAT/enhancer binding protein alpha somatic mutation (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute myeloid leukemia with nucleophosmin 1 somatic mutation (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute myeloid leukemia with nucleophosmin 1 somatic mutation (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute myeloid leukemia with t(6;9)(p23;q34) translocation (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute myeloid leukemia with t(6;9)(p23;q34) translocation (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute myeloid leukaemia with t(8;16)(p11;p13) translocation |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute myeloid leukaemia with t(8;16)(p11;p13) translocation |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute necrotizing encephalopathy of childhood (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute necrotizing encephalopathy of childhood (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute occlusion of peripheral artery due to thrombosis (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute occlusion of peripheral artery due to thrombosis (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute panmyelosis with myelofibrosis (disorder) |
|
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute panmyelosis with myelofibrosis (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute panmyelosis with myelofibrosis (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute radiation syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute radiation syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare neurometabolic disease characterized by acute, reversible, and sometimes recurrent neurologic deterioration (including drowsiness, hypotonia, dysarthria, and ataxia) during a febrile illness. The condition is associated with reversible leukoencephalopathy and persistently increased urinary excretion (and sometimes cerebrospinal fluid concentration) mainly of alpha-ketoglutarate and N-acetylaspartate. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare neurometabolic disease characterized by acute, reversible, and sometimes recurrent neurologic deterioration (including drowsiness, hypotonia, dysarthria, and ataxia) during a febrile illness. The condition is associated with reversible leukoencephalopathy and persistently increased urinary excretion (and sometimes cerebrospinal fluid concentration) mainly of alpha-ketoglutarate and N-acetylaspartate. |
|
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare neurometabolic disease characterized by acute, reversible, and sometimes recurrent neurologic deterioration (including drowsiness, hypotonia, dysarthria, and ataxia) during a febrile illness. The condition is associated with reversible leukoencephalopathy and persistently increased urinary excretion (and sometimes cerebrospinal fluid concentration) mainly of alpha-ketoglutarate and N-acetylaspartate. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| 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 organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| 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 organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute sensory ataxic neuropathy (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute sensory ataxic neuropathy (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute tricyclic antidepressant poisoning |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute tricyclic antidepressant poisoning |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute tricyclic antidepressant poisoning |
|
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute undifferentiated leukaemia |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute undifferentiated leukaemia |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adducted thumbs and arthrogryposis syndrome Christian type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adducted thumbs and arthrogryposis syndrome Christian type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adenocarcinoma of anal canal (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adenocarcinoma of anal canal (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adenocarcinoma of gallbladder and extrahepatic biliary tract (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adenocarcinoma of gallbladder and extrahepatic biliary tract (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adenocarcinoma of penis (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adenocarcinoma of penis (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adenovirus infection in immunocompromised person (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adenovirus infection in immunocompromised person (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adenylosuccinate synthetase-like 1-related distal myopathy (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adenylosuccinate synthetase-like 1-related distal myopathy (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adrenomyodystrophy (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adrenomyodystrophy (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adult familial nephronophthisis with spastic quadriparesia syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adult familial nephronophthisis with spastic quadriparesia syndrome |
en |
Attributed to a particular organisation 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 organisation 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 organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adult hepatocellular carcinoma |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adult hepatocellular carcinoma |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adult onset non-insulinoma persistent hyperinsulinemic hypoglycemia |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adult onset non-insulinoma persistent hyperinsulinemic hypoglycemia |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adult pure red cell aplasia (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adult pure red cell aplasia (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adult-onset autosomal recessive sideroblastic anemia |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adult-onset autosomal recessive sideroblastic anemia |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) |
en |
Attributed to a particular organisation 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 organisation 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 organisation 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 organisation 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 organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adult-onset overlap myositis |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adult-onset overlap myositis |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) |
|
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Agenesis of cerebellum and hydrocephalus syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Agenesis of cerebellum and hydrocephalus syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Agenesis of corpus callosum and abnormal genitalia syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Agenesis of corpus callosum and abnormal genitalia syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterised 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 organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterised 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 organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
en |
Attributed to a particular organisation 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 haemorrhage, 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 computerised tomography. |
en |
Attributed to a particular organisation 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 haemorrhage, 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 computerised tomography. |
en |
Attributed to a particular organisation 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 organisation 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 organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Aggressive fibromatosis |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Aggressive fibromatosis |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Aggressive systemic mastocytosis (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Aggressive systemic mastocytosis (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Agnathia, holoprosencephaly, situs inversus syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Agnathia, holoprosencephaly, situs inversus syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Aland Islands eye disease (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Aland Islands eye disease (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Albinism with deafness syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Albinism with deafness syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Alexander disease type II |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Alexander disease type II |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| ALPI-related inflammatory bowel disease |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| ALPI-related inflammatory bowel disease |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| ALPI-related inflammatory bowel disease |
|
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Alkuraya Kucinskas syndrome |
|
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Alkuraya Kucinskas syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Alkuraya Kucinskas syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
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