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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)

5247 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
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder) en Attribution Inserm Orphanet
Severe autosomal recessive macrothrombocytopenia (disorder) en Attribution Inserm Orphanet
T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency en Attribution Inserm Orphanet
Severe combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency en Attribution Inserm Orphanet
Severe combined immunodeficiency due to CORO1A deficiency en Attribution Inserm Orphanet
Severe combined immunodeficiency due to CTPS1 deficiency en Attribution Inserm Orphanet
Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency (disorder) en Attribution Inserm Orphanet
Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency (disorder) en Attribution Inserm Orphanet
Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency (disorder) en Attribution Inserm Orphanet
Severe combined immunodeficiency due to linker for activation of T cells deficiency (disorder) en Attribution Inserm Orphanet
Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency (disorder) en Attribution Inserm Orphanet
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder) en Attribution Inserm Orphanet
Severe congenital hypochromic anemia with ringed sideroblasts (disorder) en Attribution Inserm Orphanet
Severe congenital nemaline myopathy en Attribution Inserm Orphanet
Severe dermatitis, multiple allergies, metabolic wasting syndrome en Attribution Inserm Orphanet
Severe early childhood onset retinal dystrophy (disorder) en Attribution Inserm Orphanet
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (disorder) en Attribution Inserm Orphanet
Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder) en Attribution Inserm Orphanet
Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (disorder) en Attribution Inserm Orphanet
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome en Attribution Inserm Orphanet
Severe generalized recessive dystrophic epidermolysis bullosa (disorder) en Attribution Inserm Orphanet
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome en Attribution Inserm Orphanet
Severe hereditary factor VIII deficiency disease (disorder) en Attribution Inserm Orphanet
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) en Attribution Inserm Orphanet
Severe intellectual disability and progressive spastic paraplegia en Attribution Inserm Orphanet
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) en Attribution Inserm Orphanet
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) en Attribution Inserm Orphanet
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) en Attribution Inserm Orphanet
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) en Attribution Inserm Orphanet
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) en Attribution Inserm Orphanet
Severe intellectual disability, progressive spastic diplegia syndrome (disorder) en Attribution Inserm Orphanet
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome en Attribution Inserm Orphanet
Severe lateral tibial bowing with short stature en Attribution Inserm Orphanet
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome en Attribution Inserm Orphanet
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder) en Attribution Inserm Orphanet
Severe myopia, generalized joint laxity, short stature syndrome en Attribution Inserm Orphanet
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder) en Attribution Inserm Orphanet
Severe neonatal onset encephalopathy with microcephaly (disorder) en Attribution Inserm Orphanet
Severe neurodegenerative syndrome with lipodystrophy en Attribution Inserm Orphanet
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract en Attribution Inserm Orphanet
Severe oculo-renal-cerebellar syndrome (disorder) en Attribution Inserm Orphanet
Severe primary trimethylaminuria (disorder) en Attribution Inserm Orphanet
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) en Attribution Inserm Orphanet
Short bowel syndrome en Attribution Inserm Orphanet
Short chain acyl-coenzyme A dehydrogenase deficiency (disorder) en Attribution Inserm Orphanet
Short fifth metacarpal insulin resistance syndrome (disorder) en Attribution Inserm Orphanet
Short rib polydactyly syndrome type I (disorder) en Attribution Inserm Orphanet
Short rib polydactyly syndrome type 5 en Attribution Inserm Orphanet
Short stature Brussels type (disorder) en Attribution Inserm Orphanet
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
Short stature due to growth hormone secretagogue receptor deficiency en Attribution Inserm Orphanet
Short stature due to partial growth hormone receptor deficiency en Attribution Inserm Orphanet
Short stature due to primary acid labile subunit deficiency (disorder) en Attribution Inserm Orphanet
SHOX-related short stature en Attribution Inserm Orphanet
Short stature locking fingers syndrome (disorder) en Attribution Inserm Orphanet
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) en Attribution Inserm Orphanet
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) en Attribution Inserm Orphanet
Short stature with valvular heart disease and characteristic facies syndrome (disorder) en Attribution Inserm Orphanet
Short stature with webbed neck and congenital heart disease syndrome (disorder) en Attribution Inserm Orphanet
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) en Attribution Inserm Orphanet
Short stature, advanced bone age, early-onset osteoarthritis syndrome en Attribution Inserm Orphanet
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome en Attribution Inserm Orphanet
Short stature, brachydactyly, obesity, global developmental delay syndrome en Attribution Inserm Orphanet
Short stature, developmental delay, congenital heart defect syndrome en Attribution Inserm Orphanet
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) en Attribution Inserm Orphanet
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) en Attribution Inserm Orphanet
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) en Attribution Inserm Orphanet
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome en Attribution Inserm Orphanet
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) en Attribution Inserm Orphanet
Short stature, wormian bones, dextrocardia syndrome en Attribution Inserm Orphanet
Short tarsus with absence of lower eyelashes syndrome (disorder) en Attribution Inserm Orphanet
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing syndrome (disorder) en Attribution Inserm Orphanet
Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) en Attribution Inserm Orphanet
Shprintzen Goldberg craniosynostosis syndrome (disorder) en Attribution Inserm Orphanet
Shprintzen Goldberg omphalocele syndrome (disorder) en Attribution Inserm Orphanet
Sialidosis en Attribution Inserm Orphanet
Sialidosis type 1 (disorder) en Attribution Inserm Orphanet
Siegler Brewer Carey syndrome (disorder) en Attribution Inserm Orphanet
STAT3-related early-onset multisystem autoimmune disease en Attribution Inserm Orphanet
Simple cryoglobulinemia (disorder) en Attribution Inserm Orphanet
Sinoatrial node dysfunction and deafness en Attribution Inserm Orphanet
SCARF syndrome en Attribution Inserm Orphanet
Skeletal dysplasia brachydactyly syndrome en Attribution Inserm Orphanet
Skeletal dysplasia with epilepsy and short stature syndrome (disorder) en Attribution Inserm Orphanet
Skeletal dysplasia with intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome en Attribution Inserm Orphanet
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) en Attribution Inserm Orphanet
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) en Attribution Inserm Orphanet
X small rings en Attribution Inserm Orphanet
Smith McCort dysplasia (disorder) en Attribution Inserm Orphanet
Smoldering systemic mastocytosis en Attribution Inserm Orphanet
Sneddon syndrome en Attribution Inserm Orphanet
Sodium channelopathy-related small fibre neuropathy en Attribution Inserm Orphanet
Solitary rectal ulcer syndrome (disorder) en Attribution Inserm Orphanet
Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder) en Attribution Inserm Orphanet
Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder) en Attribution Inserm Orphanet
Solute carrier family 35 member A2 congenital disorder of glycosylation (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
Somatomammotropinoma (disorder) en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

Description inactivation indicator reference set

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