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1292992004: 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)

101 members. Search Members:

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
2-methylbutyryl-coenzyme A dehydrogenase deficiency disease Attribution Inserm Orphanet
Acute generalized exanthematous pustulosis (disorder) Attribution Inserm Orphanet
Acute panmyelosis with myelofibrosis Attribution Inserm Orphanet
Acute tricyclic antidepressant poisoning Attribution Inserm Orphanet
Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) Attribution Inserm Orphanet
Alkaline phosphatase intestinal gene related inflammatory bowel disease (disorder) Attribution Inserm Orphanet
AMeD syndrome Attribution Inserm Orphanet
Arthrogryposis multiplex congenita Attribution Inserm Orphanet
Autoimmune limbic encephalitis (disorder) Attribution Inserm Orphanet
Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1.4 linker histone, cluster member mutation (disorder) Attribution Inserm Orphanet
Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency Attribution Inserm Orphanet
Birt Hogg Dubé syndrome Attribution Inserm Orphanet
Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome (disorder) Attribution Inserm Orphanet
Cardiac urogenital syndrome Attribution Inserm Orphanet
Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome (disorder) Attribution Inserm Orphanet
CIMDAG syndrome Attribution Inserm Orphanet
Chaotic conus spinal cord lipoma Attribution Inserm Orphanet
Childhood-onset schizophrenia (disorder) Attribution Inserm Orphanet
CHD8 overgrowth syndrome Attribution Inserm Orphanet
Clark Baraitser syndrome (disorder) Attribution Inserm Orphanet
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Attribution Inserm Orphanet
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) Attribution Inserm Orphanet
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Attribution Inserm Orphanet
Congenital amyoplasia (disorder) Attribution Inserm Orphanet
Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome Attribution Inserm Orphanet
Congenital non-dysraphic lipoma of medulla of spinal cord (disorder) Attribution Inserm Orphanet
Congenital non-syndromic anorectal malformation (disorder) Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 11 (disorder) Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 12 Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 13 Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 14 Attribution Inserm Orphanet
Congenital retained medullary spinal cord Attribution Inserm Orphanet
Congenital spinal dermal sinus (disorder) Attribution Inserm Orphanet
CNTNAP2-related developmental and epileptic encephalopathy Attribution Inserm Orphanet
Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome (disorder) Attribution Inserm Orphanet
Dermatosparaxis Ehlers-Danlos syndrome (disorder) Attribution Inserm Orphanet
Intermediate DEND syndrome Attribution Inserm Orphanet
Digenic haemochromatosis Attribution Inserm Orphanet
Early-onset obesity, hyperphagia, severe developmental delay syndrome Attribution Inserm Orphanet
Embryopathy caused by isotretinoin (disorder) Attribution Inserm Orphanet
Extramedullary conus spinal cord lipoma Attribution Inserm Orphanet
Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome (disorder) Attribution Inserm Orphanet
Ferroportin disease Attribution Inserm Orphanet
Fetal twin anemia-polycythemia sequence Attribution Inserm Orphanet
Fragile X associated primary ovarian insufficiency Attribution Inserm Orphanet
Full schwannomatosis Attribution Inserm Orphanet
Hereditary butyrylcholinesterase deficiency (disorder) Attribution Inserm Orphanet
Hypomyelination of early myelinating structures (disorder) Attribution Inserm Orphanet
Idiopathic catatonia (disorder) Attribution Inserm Orphanet
Idiopathic scleritis Attribution Inserm Orphanet
Immune-mediated scleritis (disorder) Attribution Inserm Orphanet
Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome Attribution Inserm Orphanet
IRF2BPL-related regressive neurodevelopmental disorder, dystonia, seizures syndrome Attribution Inserm Orphanet
Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder) Attribution Inserm Orphanet
Isolated cleft lip (disorder) Attribution Inserm Orphanet
Isolated congenital distichiasis (disorder) Attribution Inserm Orphanet
Isolated encephalocele Attribution Inserm Orphanet
Isolated lipoma of filum terminale (disorder) Attribution Inserm Orphanet
Isolated transitional lipoma of filum terminale (disorder) Attribution Inserm Orphanet
KLHL7-related Bohring Opitz-like syndrome Attribution Inserm Orphanet
KLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome Attribution Inserm Orphanet
Kelch like family member 7-related Crisponi/cold-induced sweating-like syndrome (disorder) Attribution Inserm Orphanet
Keratitis fugax hereditaria Attribution Inserm Orphanet
Late-onset citrullinemia type I Attribution Inserm Orphanet
Leukocyte adhesion deficiency type III Attribution Inserm Orphanet
Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) Attribution Inserm Orphanet
Luscan Lumish syndrome Attribution Inserm Orphanet
Maculopapular cutaneous mastocytosis (disorder) Attribution Inserm Orphanet
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome Attribution Inserm Orphanet
Megaconial congenital muscular dystrophy Attribution Inserm Orphanet
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome Attribution Inserm Orphanet
Mitchell syndrome Attribution Inserm Orphanet
Mosaic Legius syndrome (disorder) Attribution Inserm Orphanet
Mosaic neurofibromatosis type 1 Attribution Inserm Orphanet
Mosaic neurofibromatosis type 2 (disorder) Attribution Inserm Orphanet
Myelic limited dorsal malformation (disorder) Attribution Inserm Orphanet
Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome (disorder) Attribution Inserm Orphanet
Neonatal compartment syndrome Attribution Inserm Orphanet
Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder) Attribution Inserm Orphanet
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) Attribution Inserm Orphanet
Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome Attribution Inserm Orphanet
Night blindness, skeletal anomalies, dysmorphism syndrome (disorder) Attribution Inserm Orphanet
Non-saccular limited dorsal myeloschisis (disorder) Attribution Inserm Orphanet
O'Sullivan McLeod syndrome Attribution Inserm Orphanet
Oculocutaneous albinism type 8 (disorder) Attribution Inserm Orphanet
Persistent left superior vena cava connecting through coronary sinus to left sided atrium Attribution Inserm Orphanet
PsAPASH syndrome Attribution Inserm Orphanet
Pumilio RNA binding family member 1-related cerebellar ataxia (disorder) Attribution Inserm Orphanet
Pyoderma gangrenosum, acne, hidradenitis suppurativa, ankylosing spondylitis syndrome (disorder) Attribution Inserm Orphanet
PAPASH syndrome Attribution Inserm Orphanet
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder) Attribution Inserm Orphanet
SMARCA2-related blepharophimosis, intellectual disability syndrome Attribution Inserm Orphanet
Saccular limited dorsal myeloschisis (disorder) Attribution Inserm Orphanet
Scleroderma Attribution Inserm Orphanet
Selective intrauterine growth restriction Attribution Inserm Orphanet
Solute carrier family 40 member 1-related hemochromatosis (disorder) Attribution Inserm Orphanet
Terminal myelocystocele Attribution Inserm Orphanet
Tripartite motif-containing protein 22-related inflammatory bowel disease (disorder) Attribution Inserm Orphanet
True congenital shoulder dislocation Attribution Inserm Orphanet
VEXAS syndrome Attribution Inserm Orphanet
Xp21 deletion syndrome (disorder) Attribution Inserm Orphanet

Reference Sets

Reference set descriptor

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