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1292992004: Component annotation with string value reference set (foundation metadata concept)

SNOMED CT Concept\SNOMED CT Model Component\Foundation metadata concept (foundation metadata concept)\Reference set\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)

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
Dehydrated hereditary stomatocytosis (disorder)	en	Attribution	Inserm Orphanet
Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)	en	Attribution	Inserm Orphanet
Deletion 5q35	en	Attribution	Inserm Orphanet
Dendritic cell sarcoma	en	Attribution	Inserm Orphanet
Dense deposit disease (disorder)	en	Attribution	Inserm Orphanet
Dentin dysplasia with sclerotic bone syndrome	en	Attribution	Inserm Orphanet
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	en	Attribution	Inserm Orphanet
Dermatoleukodystrophy	en	Attribution	Inserm Orphanet
Dermatoosteolysis Kirghizian type (disorder)	en	Attribution	Inserm Orphanet
Dermatosparaxis Ehlers-Danlos syndrome (disorder)	en	Attribution	Inserm Orphanet
Dermo-odonto dysplasia (disorder)	en	Attribution	Inserm Orphanet
Dermoid cyst of face (disorder)	en	Attribution	Inserm Orphanet
Dermoid cyst of neck (disorder)	en	Attribution	Inserm Orphanet
Desmin related myopathy with Mallory body-like inclusions (disorder)	en	Attribution	Inserm Orphanet
Desmin-related myofibrillar myopathy (disorder)	en	Attribution	Inserm Orphanet
Developmental delay with autism spectrum disorder and gait instability (disorder)	en	Attribution	Inserm Orphanet
Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)	en	Attribution	Inserm Orphanet
Intermediate DEND syndrome	en	Attribution	Inserm Orphanet
Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder)	en	Attribution	Inserm Orphanet
Developmental malformation, deafness, dystonia syndrome (disorder)	en	Attribution	Inserm Orphanet
Diabetic embryopathy (disorder)	en	Attribution	Inserm Orphanet
Dianzani autoimmune lymphoproliferative disease (disorder)	en	Attribution	Inserm Orphanet
Diaphanospondylodysostosis (disorder)	en	Attribution	Inserm Orphanet
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome	en	Attribution	Inserm Orphanet
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder)	en	Attribution	Inserm Orphanet
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder)	en	Attribution	Inserm Orphanet
Dicarboxylic aminoaciduria syndrome (disorder)	en	Attribution	Inserm Orphanet
Diencephalic mesencephalic junction dysplasia (disorder)	en	Attribution	Inserm Orphanet
Diffuse alveolar hemorrhage	en	Attribution	Inserm Orphanet
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (disorder)	en	Attribution	Inserm Orphanet
Diffuse leptomeningeal melanocytosis	en	Attribution	Inserm Orphanet
Diffuse palmoplantar keratoderma and acrocyanosis syndrome (disorder)	en	Attribution	Inserm Orphanet
Digenic haemochromatosis	en	Attribution	Inserm Orphanet
Digestive duplication cyst of tongue (disorder)	en	Attribution	Inserm Orphanet
Dilatation of common bile duct due to harmful use of ketamine (disorder)	en	Attribution	Inserm Orphanet
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder)	en	Attribution	Inserm Orphanet
Discrete papular lichen myxedematosus (disorder)	en	Attribution	Inserm Orphanet
Dislocation of hip and facial dysmorphism syndrome	en	Attribution	Inserm Orphanet
Disorder of fetus caused by propylthiouracil (disorder)	en	Attribution	Inserm Orphanet
Radiation-induced plexopathy	en	Attribution	Inserm Orphanet
Disorder of sex development with intellectual disability syndrome (disorder)	en	Attribution	Inserm Orphanet
Distal 16p11.2 microdeletion syndrome	en	Attribution	Inserm Orphanet
Distal 17p13.1 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
Distal 17p13.3 microdeletion syndrome	en	Attribution	Inserm Orphanet
Distal 22q11.2 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
Distal 22q11.2 microduplication syndrome (disorder)	en	Attribution	Inserm Orphanet
Distal 7q11.23 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
Distal arthrogryposis type 1 (disorder)	en	Attribution	Inserm Orphanet
Distal arthrogryposis type 10 (disorder)	en	Attribution	Inserm Orphanet
Distal arthrogryposis type 2B (disorder)	en	Attribution	Inserm Orphanet
Distal arthrogryposis type 3 (disorder)	en	Attribution	Inserm Orphanet
Distal arthrogryposis type 4 (disorder)	en	Attribution	Inserm Orphanet
Distal arthrogryposis type 5 (disorder)	en	Attribution	Inserm Orphanet
Distal arthrogryposis type 6 (disorder)	en	Attribution	Inserm Orphanet
Distal hereditary motor neuropathy Jerash type	en	Attribution	Inserm Orphanet
Distal hereditary motor neuropathy type 1 (disorder)	en	Attribution	Inserm Orphanet
Distal hereditary motor neuropathy type 2 (disorder)	en	Attribution	Inserm Orphanet
Distal hereditary motor neuropathy type 5 (disorder)	en	Attribution	Inserm Orphanet
Distal limb deficiency with micrognathia syndrome (disorder)	en	Attribution	Inserm Orphanet
Distal monosomy 10p (disorder)	en	Attribution	Inserm Orphanet
Distal monosomy 10q syndrome (disorder)	en	Attribution	Inserm Orphanet
Distal monosomy 12p	en	Attribution	Inserm Orphanet
Distal monosomy 13q syndrome	en	Attribution	Inserm Orphanet
Distal monosomy 14q syndrome (disorder)	en	Attribution	Inserm Orphanet
Distal monosomy 15q	en	Attribution	Inserm Orphanet
Distal monosomy 17q (disorder)	en	Attribution	Inserm Orphanet
Distal monosomy 19p13.3 (disorder)	en	Attribution	Inserm Orphanet
Distal monosomy 1q syndrome	en	Attribution	Inserm Orphanet
Distal monosomy 3p syndrome	en	Attribution	Inserm Orphanet
Distal monosomy 6p (disorder)	en	Attribution	Inserm Orphanet
Distal monosomy 7q36 syndrome (disorder)	en	Attribution	Inserm Orphanet
Distal monosomy 9p syndrome (disorder)	en	Attribution	Inserm Orphanet
Distal myopathy Welander type (disorder)	en	Attribution	Inserm Orphanet
Distal myopathy with posterior leg and anterior hand involvement (disorder)	en	Attribution	Inserm Orphanet
Distal myotilinopathy	en	Attribution	Inserm Orphanet
Distal partial deletion of long arm of chromosome 11 (disorder)	en	Attribution	Inserm Orphanet
Distal trisomy 10q (disorder)	en	Attribution	Inserm Orphanet
Distal trisomy 11q (disorder)	en	Attribution	Inserm Orphanet
Distal trisomy 13q (disorder)	en	Attribution	Inserm Orphanet
Distal trisomy 16q (disorder)	en	Attribution	Inserm Orphanet
Distal trisomy 17q	en	Attribution	Inserm Orphanet
Distal trisomy 19q	en	Attribution	Inserm Orphanet
Distal trisomy 1p36	en	Attribution	Inserm Orphanet
Distal trisomy 20q syndrome (disorder)	en	Attribution	Inserm Orphanet
Distal trisomy 22q syndrome (disorder)	en	Attribution	Inserm Orphanet
Distal trisomy 2p	en	Attribution	Inserm Orphanet
Distal trisomy 2q	en	Attribution	Inserm Orphanet
Distal trisomy 3p (disorder)	en	Attribution	Inserm Orphanet
Distal trisomy 4q (disorder)	en	Attribution	Inserm Orphanet
Distal trisomy 5q syndrome (disorder)	en	Attribution	Inserm Orphanet
Distal trisomy 6p syndrome (disorder)	en	Attribution	Inserm Orphanet
Distal trisomy 6q	en	Attribution	Inserm Orphanet
Distal trisomy 7p syndrome (disorder)	en	Attribution	Inserm Orphanet
Distal trisomy 8q	en	Attribution	Inserm Orphanet
Distal trisomy 9q	en	Attribution	Inserm Orphanet
DNAJB2-related Charcot-Marie-Tooth disease type 2	en	Attribution	Inserm Orphanet
Dominant beta-thalassemia (disorder)	en	Attribution	Inserm Orphanet
Double uterus, hemivagina, renal agenesis syndrome (disorder)	en	Attribution	Inserm Orphanet
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	en	Attribution	Inserm Orphanet
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)	en	Attribution	Inserm Orphanet
Duane anomaly, myopathy, scoliosis syndrome (disorder)	en	Attribution	Inserm Orphanet

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Reference Sets

Reference set descriptor

Back to Start

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)