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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
Butterfly-shaped pigmentary macular dystrophy (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
CK syndrome 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
Campomelia Cumming type (disorder) en Attribution Inserm Orphanet
Camptobrachydactyly (disorder) en Attribution Inserm Orphanet
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) en Attribution Inserm Orphanet
Camptodactyly syndrome Guadalajara type 1 (disorder) en Attribution Inserm Orphanet
Camptodactyly syndrome Guadalajara type 2 (disorder) en Attribution Inserm Orphanet
Camptodactyly syndrome Guadalajara type 3 (disorder) en Attribution Inserm Orphanet
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) en Attribution Inserm Orphanet
Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome en Attribution Inserm Orphanet
Camptomelic dysplasia en Attribution Inserm Orphanet
Cap polyposis (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
Capra DeMarco syndrome (disorder) en Attribution Inserm Orphanet
Carbamoyl-phosphate synthetase 1 deficiency (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
Carbohydrate deficient glycoprotein syndrome type 1o (disorder) en Attribution Inserm Orphanet
Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1 (disorder) en Attribution Inserm Orphanet
Carbohydrate deficient glycoprotein syndrome type 2a (disorder) en Attribution Inserm Orphanet
Carbohydrate deficient glycoprotein syndrome type 2d (disorder) en Attribution Inserm Orphanet
Carbohydrate deficient glycoprotein syndrome type 2k (disorder) en Attribution Inserm Orphanet
Carbohydrate sulfotransferase 3 related skeletal dysplasia (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 anomaly and heterotaxy syndrome (disorder) en Attribution Inserm Orphanet
Cardiac urogenital syndrome en Attribution Inserm Orphanet
Cardiocranial syndrome Pfeiffer type (disorder) en Attribution Inserm Orphanet
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) en Attribution Inserm Orphanet
Cardiospondylocarpofacial syndrome (disorder) en Attribution Inserm Orphanet
Carney complex (disorder) en Attribution Inserm Orphanet
Carney complex, trismus, pseudocamptodactyly syndrome en Attribution Inserm Orphanet
Carney triad en Attribution Inserm Orphanet
Carnosinase deficiency disorder en Attribution Inserm Orphanet
Caroli disease (disorder) en Attribution Inserm Orphanet
Caroli syndrome en Attribution Inserm Orphanet
Carpotarsal osteochondromatosis (disorder) 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
Cat eye syndrome en Attribution Inserm Orphanet
Cataract and microcornea 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, 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 core disease 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 2B5 en Attribution Inserm Orphanet
Charcot-Marie-Tooth disease type 2H (disorder) en Attribution Inserm Orphanet
Charcot-Marie-Tooth disease type 2P (disorder) en Attribution Inserm Orphanet
Charcot-Marie-Tooth disease type 2R 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

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Reference Sets

Reference set descriptor

Description inactivation indicator reference set

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