| Members |
languageDialectCode |
typeId |
value |
| Absent tibia, polydactyly, arachnoid cyst syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Absent tibia, polydactyly, arachnoid cyst syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Supernumerary nostril is an extremely rare congenital malformation characterised by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Supernumerary nostril is an extremely rare congenital malformation characterised by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acetazolamide responsive myotonia (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acetazolamide responsive myotonia (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Achalasia microcephaly syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Achalasia microcephaly syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Ackerman syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Ackerman syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare subtype of renal cell carcinoma, occurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare subtype of renal cell carcinoma, occurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare monoclonal gammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricemia. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare monoclonal gammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricemia. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acquired purpura fulminans |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acquired purpura fulminans |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A form of localized dystrophic epidermolysis bullosa characterized by trauma-induced blistering confined primarily to the hands and feet. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A form of localized dystrophic epidermolysis bullosa characterized by trauma-induced blistering confined primarily to the hands and feet. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acral self-healing collodion baby |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acral self-healing collodion baby |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acrocardiofacial syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acrocardiofacial syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acrocephalopolydactyly (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acrocephalopolydactyly (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acrocraniofacial dysostosis (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acrocraniofacial dysostosis (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acrofacial dysostosis Catania type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acrofacial dysostosis Catania type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acrofacial dysostosis Kennedy Teebi type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acrofacial dysostosis Kennedy Teebi type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acrofacial dysostosis Palagonia type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acrofacial dysostosis Palagonia type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acrofacial dysostosis Rodriguez type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acrofacial dysostosis Rodriguez type (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acrofrontofacionasal dysostosis (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acrofrontofacionasal dysostosis (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acrofrontofacionasal dysostosis type 2 |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acrofrontofacionasal dysostosis type 2 |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acromelic frontonasal dysplasia (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acromelic frontonasal dysplasia (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acro-oto-ocular syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acro-oto-ocular syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acropectoral syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acropectoral syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acropectorovertebral dysplasia |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acropectorovertebral dysplasia |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acrorenal mandibular syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acrorenal mandibular syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acrorenal syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acrorenal syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Action myoclonus renal failure syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Action myoclonus renal failure syndrome |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute adrenal insufficiency (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute adrenal insufficiency (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Bilateral acute depigmentation of the iris (BADI) is characterised by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Bilateral acute depigmentation of the iris (BADI) is characterised by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute encephalopathy with biphasic seizures and late reduced diffusion |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute encephalopathy with biphasic seizures and late reduced diffusion |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute generalized exanthematous pustulosis (disorder) |
|
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute generalized exanthematous pustulosis (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute generalized exanthematous pustulosis (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterised clinically by transient, but life-threatening acute liver failure episodes. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterised clinically by transient, but life-threatening acute liver failure episodes. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Respiratory failure or refractory seizures may lead to a fatal outcome. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Respiratory failure or refractory seizures may lead to a fatal outcome. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute macular neuroretinopathy (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute macular neuroretinopathy (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute motor axonal neuropathy (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute motor axonal neuropathy (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute motor sensory axonal neuropathy |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute motor sensory axonal neuropathy |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute myeloid leukaemia and myelodysplastic syndrome related to alkylating agent |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute myeloid leukaemia and myelodysplastic syndrome related to alkylating agent |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute myeloid leukemia and myelodysplastic syndrome related to radiation (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute myeloid leukemia and myelodysplastic syndrome related to radiation (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute myeloid leukaemia and myelodysplastic syndrome related to topoisomerase type 2 inhibitor |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute myeloid leukaemia and myelodysplastic syndrome related to topoisomerase type 2 inhibitor |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute myeloid leukemia with 11q23 abnormality |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute myeloid leukemia with 11q23 abnormality |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute myeloid leukaemia with BCR-ABL1 |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Acute myeloid leukaemia with BCR-ABL1 |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| 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 CCAAT/enhancer binding protein alpha somatic mutation (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.4-SNAPSHOT
|
FHIR Version n/a
User: [n/a]