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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
Charlie M syndrome (disorder) en Attribution Inserm Orphanet
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder) en Attribution Inserm Orphanet
Childhood neoplasm of heart (disorder) en Attribution Inserm Orphanet
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder) en Attribution Inserm Orphanet
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder) en Attribution Inserm Orphanet
Childhood-onset basal ganglia degeneration syndrome en Attribution Inserm Orphanet
Childhood-onset benign chorea with striatal involvement en Attribution Inserm Orphanet
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder en Attribution Inserm Orphanet
Childhood-onset nemaline myopathy en Attribution Inserm Orphanet
Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome en Attribution Inserm Orphanet
Childhood-onset schizophrenia (disorder) en Attribution Inserm Orphanet
Childhood-onset spasticity with hyperglycinemia (disorder) en Attribution Inserm Orphanet
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome (disorder) en Attribution Inserm Orphanet
Choanal atresia with radial ray hypoplasia en Attribution Inserm Orphanet
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) en Attribution Inserm Orphanet
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) en Attribution Inserm Orphanet
Chondrodysplasia punctata Toriello type (disorder) en Attribution Inserm Orphanet
Chondrodysplasia punctata, X-linked dominant type (disorder) en Attribution Inserm Orphanet
Chondrodysplasia with disorder of sex development syndrome (disorder) en Attribution Inserm Orphanet
Chondrodysplasia with joint dislocations gPAPP type (disorder) en Attribution Inserm Orphanet
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) en Attribution Inserm Orphanet
Chondroectodermal dysplasia with night blindness syndrome (disorder) en Attribution Inserm Orphanet
Chordoid glioma (disorder) en Attribution Inserm Orphanet
Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome (disorder) en Attribution Inserm Orphanet
Choroidal atrophy and alopecia syndrome (disorder) en Attribution Inserm Orphanet
Choroideremia with deafness and obesity syndrome (disorder) en Attribution Inserm Orphanet
Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder) en Attribution Inserm Orphanet
CHD8 overgrowth syndrome en Attribution Inserm Orphanet
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome en Attribution Inserm Orphanet
Potocki-Shaffer syndrome en Attribution Inserm Orphanet
Chromosome 11p13 deletion syndrome (disorder) en Attribution Inserm Orphanet
Chromosome 3q29 duplication syndrome (disorder) en Attribution Inserm Orphanet
Chromosome Xp11.3 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
Chromosome Xp22.3 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
Chromosome Xq27.3q28 duplication syndrome (disorder) en Attribution Inserm Orphanet
Chronic Epstein-Barr virus infection syndrome en Attribution Inserm Orphanet
Chronic ataxic neuropathy, ophthalmoplegia, monoclonal immunoglobulin M protein, cold agglutinin and disialosyl antibody syndrome (disorder) en Attribution Inserm Orphanet
Chronic atrial and intestinal dysrhythmia (disorder) en Attribution Inserm Orphanet
Chronic diarrhea due to glucoamylase deficiency (disorder) en Attribution Inserm Orphanet
Chronic diarrhea with villous atrophy syndrome (disorder) en Attribution Inserm Orphanet
Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene (disorder) en Attribution Inserm Orphanet
Chronic failure of small intestine (disorder) en Attribution Inserm Orphanet
Chronic hiccup (disorder) en Attribution Inserm Orphanet
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) en Attribution Inserm Orphanet
Chronic intervillositis of unknown etiology en Attribution Inserm Orphanet
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (disorder) en Attribution Inserm Orphanet
Chronic neurovisceral acid sphingomyelinase deficiency (disorder) en Attribution Inserm Orphanet
Chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis en Attribution Inserm Orphanet
Majeed syndrome en Attribution Inserm Orphanet
Chronic relapsing inflammatory optic neuropathy (disorder) en Attribution Inserm Orphanet
Chronic respiratory distress with surfactant metabolism deficiency (disorder) en Attribution Inserm Orphanet
Chudley McCullough syndrome (disorder) en Attribution Inserm Orphanet
Chuvash erythrocytosis en Attribution Inserm Orphanet
Chylomicron retention disease en Attribution Inserm Orphanet
Citrullinemia type I (disorder) en Attribution Inserm Orphanet
Citrullinemia type II (disorder) en Attribution Inserm Orphanet
Clark Baraitser syndrome (disorder) en Attribution Inserm Orphanet
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) en Attribution Inserm Orphanet
Classic mycosis fungoides en Attribution Inserm Orphanet
Classical-like Ehlers-Danlos syndrome type 1 en Attribution Inserm Orphanet
Classical-like Ehlers-Danlos syndrome type 2 en Attribution Inserm Orphanet
Clear cell papillary renal cell carcinoma (disorder) en Attribution Inserm Orphanet
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) en Attribution Inserm Orphanet
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) en Attribution Inserm Orphanet
Cleft lip retinopathy syndrome (disorder) en Attribution Inserm Orphanet
Lowry Yong syndrome en Attribution Inserm Orphanet
Abruzzo Erickson syndrome en Attribution Inserm Orphanet
Cleft palate with short stature and vertebral anomaly syndrome (disorder) en Attribution Inserm Orphanet
Cleft palate with stapes fixation and oligodontia syndrome (disorder) en Attribution Inserm Orphanet
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Cleft palate, large ears, small head syndrome en Attribution Inserm Orphanet
Cleidorhizomelic syndrome (disorder) en Attribution Inserm Orphanet
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) en Attribution Inserm Orphanet
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Coagulation factor XII-associated cold autoinflammatory syndrome (disorder) en Attribution Inserm Orphanet
Cobblestone lissencephaly without muscular or ocular involvement (disorder) en Attribution Inserm Orphanet
Cochleosaccular degeneration and cataract syndrome (disorder) en Attribution Inserm Orphanet
Coenzyme A synthase protein associated neurodegeneration (disorder) en Attribution Inserm Orphanet
Coffin-Lowry syndrome en Attribution Inserm Orphanet
Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Coiled-coil domain containing 115 congenital disorder of glycosylation (disorder) en Attribution Inserm Orphanet
Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) en Attribution Inserm Orphanet
Coloboma of inferior eyelid (disorder) en Attribution Inserm Orphanet
Coloboma of macula with brachydactyly type B syndrome (disorder) en Attribution Inserm Orphanet
Coloboma of superior eyelid en Attribution Inserm Orphanet
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) en Attribution Inserm Orphanet
Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (disorder) en Attribution Inserm Orphanet
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) en Attribution Inserm Orphanet
Colobomatous macrophthalmia with microcornea syndrome (disorder) en Attribution Inserm Orphanet
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome en Attribution Inserm Orphanet
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome en Attribution Inserm Orphanet
Combined deficiency of factor V and factor VIII (disorder) en Attribution Inserm Orphanet
Combined deficiency of sialidase AND beta galactosidase en Attribution Inserm Orphanet
Combined hamartoma of retina and retinal pigment epithelium en Attribution Inserm Orphanet
Combined hyperactive dysfunction syndrome of cranial nerves (disorder) en Attribution Inserm Orphanet
Combined immunodeficiency due to CD3gamma deficiency (disorder) en Attribution Inserm Orphanet
Combined immunodeficiency due to CD70 deficiency (disorder) en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

Description inactivation indicator reference set

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