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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
Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome en Attribution Inserm Orphanet
Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency (disorder) en Attribution Inserm Orphanet
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder) en Attribution Inserm Orphanet
Congenital chronic diarrhea with protein-losing enteropathy (disorder) en Attribution Inserm Orphanet
Congenital cochleovestibular malformation en Attribution Inserm Orphanet
Congenital coloboma of macula lutea en Attribution Inserm Orphanet
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome en Attribution Inserm Orphanet
Congenital cyst of larynx (disorder) en Attribution Inserm Orphanet
Congenital cyst of nasolacrimal duct (disorder) en Attribution Inserm Orphanet
Congenital deafness with labyrinthine aplasia, microtia and microdontia en Attribution Inserm Orphanet
Congenital deficiency of cochlear nerve (disorder) en Attribution Inserm Orphanet
Congenital disorder of glycosylation type 1e (disorder) en Attribution Inserm Orphanet
Congenital disorder of glycosylation type 1f (disorder) en Attribution Inserm Orphanet
Congenital disorder of glycosylation type 1i en Attribution Inserm Orphanet
Congenital disorder of glycosylation type 1j (disorder) en Attribution Inserm Orphanet
Congenital disorder of glycosylation type 1n (disorder) en Attribution Inserm Orphanet
Congenital disorder of glycosylation type 1p en Attribution Inserm Orphanet
Congenital disorder of glycosylation type 1q (disorder) en Attribution Inserm Orphanet
Congenital disorder of glycosylation type 1r (disorder) en Attribution Inserm Orphanet
Congenital disorder of glycosylation type 1s en Attribution Inserm Orphanet
Congenital disorder of glycosylation type 1w (disorder) en Attribution Inserm Orphanet
Congenital disorder of glycosylation type 1x en Attribution Inserm Orphanet
Congenital disorder of glycosylation type 1y en Attribution Inserm Orphanet
Congenital duplication of nose (disorder) en Attribution Inserm Orphanet
Congenital duplication of rectum (disorder) en Attribution Inserm Orphanet
Congenital dyserythropoietic anemia type IV (disorder) en Attribution Inserm Orphanet
Congenital dysplasia of supratip of nose (disorder) en Attribution Inserm Orphanet
Congenital enterocyte heparan sulfate deficiency (disorder) en Attribution Inserm Orphanet
Congenital epithelial dysplasia of intestine (disorder) en Attribution Inserm Orphanet
Congenital erosive and vesicular dermatosis en Attribution Inserm Orphanet
Congenital fibrosis syndrome (disorder) en Attribution Inserm Orphanet
Congenital fistula of commissure of lips en Attribution Inserm Orphanet
Congenital generalized hypercontractile muscle stiffness syndrome en Attribution Inserm Orphanet
Sonoda syndrome en Attribution Inserm Orphanet
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder) en Attribution Inserm Orphanet
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) en Attribution Inserm Orphanet
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) en Attribution Inserm Orphanet
Congenital hydrocephalus, low insertion of umbilicus syndrome en Attribution Inserm Orphanet
Congenital hypoplasia of ulna and intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Congenital hypoplasia of ulna and split foot syndrome (disorder) en Attribution Inserm Orphanet
Congenital hypothyroidism due to maternal intake of antithyroid drug en Attribution Inserm Orphanet
Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation (disorder) en Attribution Inserm Orphanet
Congenital hypothyroidism due to transplacental passage of maternal thyroid stimulating hormone binding inhibitory antibody (disorder) en Attribution Inserm Orphanet
Congenital ichthyosis with hypotrichosis syndrome (disorder) en Attribution Inserm Orphanet
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder) en Attribution Inserm Orphanet
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) en Attribution Inserm Orphanet
Congenital infection caused by Epstein-Barr virus (disorder) en Attribution Inserm Orphanet
Congenital infection caused by Herpes virus (disorder) en Attribution Inserm Orphanet
Congenital infection caused by enterovirus (disorder) en Attribution Inserm Orphanet
Congenital insensitivity to pain with severe intellectual disability (disorder) en Attribution Inserm Orphanet
Congenital insensitivity to pain, anosmia, neuropathic arthropathy en Attribution Inserm Orphanet
Congenital insensitivity to pain, hyperhidrosis, absence of cutaneous sensory innervation (disorder) en Attribution Inserm Orphanet
Congenital intrauterine infection-like syndrome (disorder) en Attribution Inserm Orphanet
Congenital isolated adrenocorticotropic hormone deficiency (disorder) en Attribution Inserm Orphanet
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome en Attribution Inserm Orphanet
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder) en Attribution Inserm Orphanet
Congenital laryngotracheoesophageal cleft en Attribution Inserm Orphanet
Congenital lethal erythroderma (disorder) en Attribution Inserm Orphanet
Congenital lethal myopathy Compton North type en Attribution Inserm Orphanet
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder) en Attribution Inserm Orphanet
Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome (disorder) en Attribution Inserm Orphanet
Primary laryngeal lymphangioma en Attribution Inserm Orphanet
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) en Attribution Inserm Orphanet
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization (disorder) en Attribution Inserm Orphanet
Congenital microcephaly (disorder) en Attribution Inserm Orphanet
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome en Attribution Inserm Orphanet
Congenital microgastria with limb reduction defect syndrome (disorder) en Attribution Inserm Orphanet
Congenital muscular dystrophy Paradas type (disorder) en Attribution Inserm Orphanet
Congenital muscular dystrophy due to lamin A/C mutation (disorder) en Attribution Inserm Orphanet
Congenital muscular dystrophy type 1B en Attribution Inserm Orphanet
Congenital muscular dystrophy with cerebellar involvement en Attribution Inserm Orphanet
Congenital muscular dystrophy with hyperlaxity (disorder) en Attribution Inserm Orphanet
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) en Attribution Inserm Orphanet
Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder) en Attribution Inserm Orphanet
Congenital muscular dystrophy with intellectual disability en Attribution Inserm Orphanet
Congenital muscular dystrophy with intellectual disability and severe epilepsy en Attribution Inserm Orphanet
Congenital muscular dystrophy without intellectual disability (disorder) en Attribution Inserm Orphanet
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome (disorder) en Attribution Inserm Orphanet
Congenital myopathy with fibre type disproportion en Attribution Inserm Orphanet
Congenital myopathy with internal nuclei and atypical cores (disorder) en Attribution Inserm Orphanet
Congenital myopathy with myasthenic-like onset (disorder) en Attribution Inserm Orphanet
Congenital myopathy with reduced type 2 muscle fibers en Attribution Inserm Orphanet
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome en Attribution Inserm Orphanet
Congenital neutropenia, combined immunodeficiency due to MKL1 deficiency en Attribution Inserm Orphanet
Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) en Attribution Inserm Orphanet
Congenital non-dysraphic lipoma of medulla of spinal cord (disorder) en Attribution Inserm Orphanet
Congenital non-syndromic anorectal malformation (disorder) en Attribution Inserm Orphanet
Congenital oculomotor nerve palsy (disorder) en Attribution Inserm Orphanet
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome en Attribution Inserm Orphanet
Congenital palmoplantar and perioral keratoderma of Olmsted en Attribution Inserm Orphanet
Congenital palsy of trochlear nerve (disorder) en Attribution Inserm Orphanet
Congenital panfollicular nevus en Attribution Inserm Orphanet
Congenital patent ductus arteriosus aneurysm en Attribution Inserm Orphanet
Congenital peripapillary staphyloma en Attribution Inserm Orphanet
Congenital plasminogen activator inhibitor deficiency type 1 (disorder) en Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 1 (disorder) en Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 10 (disorder) en Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 11 (disorder) en Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 12 en Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 13 en Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 14 en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

Description inactivation indicator reference set

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