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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)

2698 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
Short stature, developmental delay, congenital heart defect syndrome en Attribution Inserm Orphanet
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) en Attribution Inserm Orphanet
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome en Attribution Inserm Orphanet
Shprintzen Goldberg craniosynostosis syndrome (disorder) en Attribution Inserm Orphanet
Shprintzen Goldberg omphalocele syndrome (disorder) en Attribution Inserm Orphanet
STAT3-related early-onset multisystem autoimmune disease en Attribution Inserm Orphanet
Skeletal dysplasia with epilepsy and short stature syndrome (disorder) en Attribution Inserm Orphanet
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) en Attribution Inserm Orphanet
Smith McCort dysplasia (disorder) en Attribution Inserm Orphanet
Smoldering systemic mastocytosis en Attribution Inserm Orphanet
Solitary rectal ulcer syndrome (disorder) en Attribution Inserm Orphanet
SLC39A8 congenital disorder of glycosylation en Attribution Inserm Orphanet
Solute carrier family 40 member 1-related hemochromatosis (disorder) en Attribution Inserm Orphanet
Spastic ataxia, dysarthria due to glutaminase deficiency (disorder) en Attribution Inserm Orphanet
Spastic paraparesis co-occurrent with deafness (disorder) en Attribution Inserm Orphanet
Spastic paraplegia type 7 (disorder) en Attribution Inserm Orphanet
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome en Attribution Inserm Orphanet
Spastic paraplegia, severe developmental delay, epilepsy syndrome en Attribution Inserm Orphanet
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome en Attribution Inserm Orphanet
SATB2-associated syndrome en Attribution Inserm Orphanet
Spinocerebellar ataxia type 1 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 10 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 11 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 12 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 13 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 14 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 15/16 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 17 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 18 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 19 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 2 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 20 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 21 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 23 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 25 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 26 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 27 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 28 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 29 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 30 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 31 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 32 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 34 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 35 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 37 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 4 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 41 en Attribution Inserm Orphanet
Spinocerebellar ataxia type 42 en Attribution Inserm Orphanet
Spinocerebellar ataxia type 43 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 45 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 46 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 5 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 6 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 7 (disorder) en Attribution Inserm Orphanet
Spinocerebellar ataxia type 8 (disorder) en Attribution Inserm Orphanet
Spinocerebellar degeneration co-occurrent with macular corneal dystrophy (disorder) en Attribution Inserm Orphanet
Split spinal cord malformation type I (disorder) en Attribution Inserm Orphanet
Split-foot malformation, mesoaxial polydactyly syndrome en Attribution Inserm Orphanet
Spondylocamptodactyly syndrome (disorder) en Attribution Inserm Orphanet
Spondylodysplastic Ehlers-Danlos syndrome en Attribution Inserm Orphanet
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder) en Attribution Inserm Orphanet
Spondyloepimetaphyseal dysplasia Irapa type (disorder) en Attribution Inserm Orphanet
Spondyloepimetaphyseal dysplasia Missouri type (disorder) en Attribution Inserm Orphanet
Spondyloepimetaphyseal dysplasia Shohat type (disorder) en Attribution Inserm Orphanet
Spondyloepimetaphyseal dysplasia aggrecan type (disorder) en Attribution Inserm Orphanet
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) en Attribution Inserm Orphanet
Spondyloepimetaphyseal dysplasia with joint laxity Beighton type en Attribution Inserm Orphanet
Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder) en Attribution Inserm Orphanet
Spondyloepiphyseal dysplasia Kimberley type (disorder) en Attribution Inserm Orphanet
Spondyloepiphyseal dysplasia Maroteaux type (disorder) en Attribution Inserm Orphanet
Spondyloepiphyseal dysplasia Reardon type (disorder) en Attribution Inserm Orphanet
Spondyloepiphyseal dysplasia Stanescu type en Attribution Inserm Orphanet
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) en Attribution Inserm Orphanet
Spondyloepiphyseal dysplasia tarda Kohn type (disorder) en Attribution Inserm Orphanet
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) en Attribution Inserm Orphanet
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome (disorder) en Attribution Inserm Orphanet
Spondylometaphyseal dysplasia Schmidt type (disorder) en Attribution Inserm Orphanet
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) en Attribution Inserm Orphanet
Spondylometaphyseal dysplasia, corneal dystrophy syndrome en Attribution Inserm Orphanet
Stapes ankylosis with broad thumb and toe syndrome (disorder) en Attribution Inserm Orphanet
Steatocystoma multiplex with natal tooth syndrome (disorder) en Attribution Inserm Orphanet
Steinfeld syndrome (disorder) en Attribution Inserm Orphanet
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome en Attribution Inserm Orphanet
Stromme syndrome en Attribution Inserm Orphanet
Sugarman brachydactyly (disorder) en Attribution Inserm Orphanet
Susceptibility to infection due to tyrosine kinase 2 deficiency (disorder) en Attribution Inserm Orphanet
Susceptibility to localized juvenile periodontitis en Attribution Inserm Orphanet
Symmetrical thalamic calcification (disorder) en Attribution Inserm Orphanet
Symptomatic form of Coffin-Lowry syndrome in female carrier (disorder) en Attribution Inserm Orphanet
Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder) en Attribution Inserm Orphanet
Symptomatic form of fragile X syndrome in female carrier (disorder) en Attribution Inserm Orphanet
Symptomatic form of hemochromatosis type 1 (disorder) en Attribution Inserm Orphanet
Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) en Attribution Inserm Orphanet
Syndactyly type 1 (disorder) en Attribution Inserm Orphanet
Syndactyly type 2 (disorder) en Attribution Inserm Orphanet
Syndactyly type 3 (disorder) en Attribution Inserm Orphanet
Syndactyly type 4 (disorder) en Attribution Inserm Orphanet
Syndactyly type 5 (disorder) en Attribution Inserm Orphanet
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) en Attribution Inserm Orphanet
Syndromic X-linked intellectual disability type 11 (disorder) en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

GB English

US English

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