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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)

4145 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
Cataract, congenital heart disease, neural tube defect syndrome (disorder) en Attribution Inserm Orphanet
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Catel Manzke syndrome (disorder) en Attribution Inserm Orphanet
Cathepsin A-related arteriopathy, strokes, leucoencephalopathy en Attribution Inserm Orphanet
Caudal appendage deafness syndrome (disorder) en Attribution Inserm Orphanet
Cavernous lymphangioma en Attribution Inserm Orphanet
Celiac disease with epilepsy and cerebral calcification syndrome (disorder) en Attribution Inserm Orphanet
CIDEC-related familial partial lipodystrophy en Attribution Inserm Orphanet
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) en Attribution Inserm Orphanet
Cerebellar ataxia Cayman type (disorder) en Attribution Inserm Orphanet
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) en Attribution Inserm Orphanet
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) en Attribution Inserm Orphanet
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome en Attribution Inserm Orphanet
Cerebellar ataxia with oculomotor apraxia type 4 (disorder) en Attribution Inserm Orphanet
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder) en Attribution Inserm Orphanet
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome en Attribution Inserm Orphanet
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder) en Attribution Inserm Orphanet
CIMDAG syndrome en Attribution Inserm Orphanet
Cerebellar-facial-dental syndrome (disorder) en Attribution Inserm Orphanet
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) en Attribution Inserm Orphanet
Cerebral ventriculomegaly, cystic kidney disease en Attribution Inserm Orphanet
Cerebro-facio-thoracic dysplasia (disorder) en Attribution Inserm Orphanet
Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder) en Attribution Inserm Orphanet
Cerebrofacioarticular syndrome (disorder) en Attribution Inserm Orphanet
Cerebrooculonasal syndrome (disorder) en Attribution Inserm Orphanet
Cervical hypertrichosis and peripheral neuropathy syndrome (disorder) en Attribution Inserm Orphanet
Cervicofacial fibrochondroma en Attribution Inserm Orphanet
Chaotic conus spinal cord lipoma en Attribution Inserm Orphanet
Charcot-Marie-Tooth disease type 2B1 (disorder) en Attribution Inserm Orphanet
Charcot-Marie-Tooth disease type 2B2 (disorder) en Attribution Inserm Orphanet
Charcot-Marie-Tooth disease type 2H (disorder) en Attribution Inserm Orphanet
Charcot-Marie-Tooth disease type 2S en Attribution Inserm Orphanet
Charcot-Marie-Tooth disease type 2T (disorder) en Attribution Inserm Orphanet
Charcot-Marie-Tooth disease type 4A (disorder) en Attribution Inserm Orphanet
Charcot-Marie-Tooth disease type 4B1 (disorder) en Attribution Inserm Orphanet
Charcot-Marie-Tooth disease type 4B2 (disorder) en Attribution Inserm Orphanet
Charcot-Marie-Tooth disease type 4B3 en Attribution Inserm Orphanet
Charcot-Marie-Tooth disease type 4C (disorder) en Attribution Inserm Orphanet
Charcot-Marie-Tooth disease type 4D (disorder) en Attribution Inserm Orphanet
Charcot-Marie-Tooth disease type 4E (disorder) en Attribution Inserm Orphanet
Charcot-Marie-Tooth disease type 4F (disorder) en Attribution Inserm Orphanet
Charcot-Marie-Tooth disease type 4G (disorder) en Attribution Inserm Orphanet
Charcot-Marie-Tooth disease type 4H (disorder) en Attribution Inserm Orphanet
Charcot-Marie-Tooth disease type 4J (disorder) en Attribution Inserm Orphanet
Charcot-Marie-Tooth disease type ID (disorder) en Attribution Inserm Orphanet
Charcot-Marie-Tooth disease type IE (disorder) en Attribution Inserm Orphanet
Charcot-Marie-Tooth disease type IF (disorder) en Attribution Inserm Orphanet
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome en Attribution Inserm Orphanet
Charlie M syndrome (disorder) en Attribution Inserm Orphanet
Childhood neoplasm of heart (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
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, 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 with disorder of sex development syndrome (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
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 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 intervillositis of unknown etiology en Attribution Inserm Orphanet
Chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis en Attribution Inserm Orphanet
Chronic relapsing inflammatory optic neuropathy (disorder) en Attribution Inserm Orphanet
Chuvash erythrocytosis 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 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

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Reference Sets

Reference set descriptor

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