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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
Biliary atresia with splenic malformation syndrome (disorder) en Attribution Inserm Orphanet
Birt Hogg Dubé syndrome en Attribution Inserm Orphanet
Blepharocheilodontic syndrome (disorder) en Attribution Inserm Orphanet
Blepharonasofacial malformation syndrome (disorder) en Attribution Inserm Orphanet
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) en Attribution Inserm Orphanet
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) en Attribution Inserm Orphanet
Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome (disorder) en Attribution Inserm Orphanet
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder) en Attribution Inserm Orphanet
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) en Attribution Inserm Orphanet
Blindness, scoliosis, arachnodactyly syndrome (disorder) en Attribution Inserm Orphanet
Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) en Attribution Inserm Orphanet
Body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency (disorder) en Attribution Inserm Orphanet
Bothnia retinal dystrophy (disorder) en Attribution Inserm Orphanet
Brachydactylous dwarfism Mseleni type en Attribution Inserm Orphanet
Brachydactyly type A1 (disorder) en Attribution Inserm Orphanet
Brachydactyly type A4 (disorder) en Attribution Inserm Orphanet
Brachydactyly type A6 (disorder) en Attribution Inserm Orphanet
BRESEK syndrome en Attribution Inserm Orphanet
Brain dopamine-serotonin vesicular transport disease (disorder) en Attribution Inserm Orphanet
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder) en Attribution Inserm Orphanet
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome en Attribution Inserm Orphanet
Branchiogenic deafness syndrome (disorder) en Attribution Inserm Orphanet
BSG syndrome en Attribution Inserm Orphanet
Brittle cornea syndrome (disorder) en Attribution Inserm Orphanet
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder) en Attribution Inserm Orphanet
CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder) en Attribution Inserm Orphanet
Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphedema (disorder) en Attribution Inserm Orphanet
Calciphylaxis cutis (disorder) en Attribution Inserm Orphanet
Calpain-3-related limb girdle muscular dystrophy D4 en Attribution Inserm Orphanet
Camptodactyly syndrome Guadalajara type 3 (disorder) en Attribution Inserm Orphanet
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) en Attribution Inserm Orphanet
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder) en Attribution Inserm Orphanet
Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation (disorder) en Attribution Inserm Orphanet
Carbohydrate deficient glycoprotein syndrome type 1m (disorder) en Attribution Inserm Orphanet
CPE-related Prader-Willi-like syndrome en Attribution Inserm Orphanet
Carcinoma of salivary gland type of breast (disorder) en Attribution Inserm Orphanet
Cardiac urogenital syndrome en Attribution Inserm Orphanet
Caroli disease (disorder) en Attribution Inserm Orphanet
Caroli syndrome en Attribution Inserm Orphanet
Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome (disorder) en Attribution Inserm Orphanet
Cataract glaucoma syndrome (disorder) en Attribution Inserm Orphanet
Cataract with aberrant oral frenula and growth delay syndrome (disorder) en Attribution Inserm Orphanet
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Cathepsin A-related arteriopathy, strokes, leucoencephalopathy en Attribution Inserm Orphanet
Cavernous lymphangioma en Attribution Inserm Orphanet
CIDEC-related familial partial lipodystrophy 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
CIMDAG syndrome en Attribution Inserm Orphanet
Cerebellar-facial-dental syndrome (disorder) en Attribution Inserm Orphanet
Cerebral ventriculomegaly, cystic kidney disease en Attribution Inserm Orphanet
Cerebro-oculo-dento-auriculo-skeletal 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 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 4C (disorder) en Attribution Inserm Orphanet
Charcot-Marie-Tooth disease type 4D (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 IE (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
Chondrodysplasia punctata Toriello type (disorder) en Attribution Inserm Orphanet
Chondrodysplasia, dentinogenesis imperfecta, joint laxity 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
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 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 diarrhea due to glucoamylase deficiency (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
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

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Reference Sets

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