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
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder)	en	Attribution	Inserm Orphanet
Classical-like Ehlers-Danlos syndrome type 2	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
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, congenital heart defect, intellectual disability syndrome (disorder)	en	Attribution	Inserm Orphanet
Cloverleaf skull with multiple congenital anomalies syndrome (disorder)	en	Attribution	Inserm Orphanet
Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)	en	Attribution	Inserm Orphanet
Cochleosaccular degeneration and cataract syndrome (disorder)	en	Attribution	Inserm Orphanet
Coiled-coil domain containing 115 congenital disorder of glycosylation (disorder)	en	Attribution	Inserm Orphanet
Coloboma of macula with brachydactyly type B 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 optic disc, macular atrophy, chorioretinopathy syndrome	en	Attribution	Inserm Orphanet
Combined deficiency of factor V and factor VIII (disorder)	en	Attribution	Inserm Orphanet
Combined hamartoma of retina and retinal pigment epithelium	en	Attribution	Inserm Orphanet
Combined immunodeficiency due to CD70 deficiency (disorder)	en	Attribution	Inserm Orphanet
Combined immunodeficiency due to FCHO1 deficiency	en	Attribution	Inserm Orphanet
Combined immunodeficiency due to GINS complex subunit 1 deficiency (disorder)	en	Attribution	Inserm Orphanet
Combined immunodeficiency due to RELA haploinsufficiency (disorder)	en	Attribution	Inserm Orphanet
Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (disorder)	en	Attribution	Inserm Orphanet
Combined immunodeficiency due to calcium release activated calcium channel dysfunction (disorder)	en	Attribution	Inserm Orphanet
Combined immunodeficiency due to CARMIL2 deficiency	en	Attribution	Inserm Orphanet
Combined immunodeficiency due to caspase recruitment domain family member 11 protein deficiency (disorder)	en	Attribution	Inserm Orphanet
Combined immunodeficiency due to DOCK8 deficiency	en	Attribution	Inserm Orphanet
Combined immunodeficiency due to ITK deficiency	en	Attribution	Inserm Orphanet
Combined immunodeficiency due to lipopolysaccharide-responsive beige-like anchor protein deficiency (disorder)	en	Attribution	Inserm Orphanet
Combined immunodeficiency due to moesin deficiency (disorder)	en	Attribution	Inserm Orphanet
Combined immunodeficiency due to transferrin receptor deficiency (disorder)	en	Attribution	Inserm Orphanet
Combined immunodeficiency, enteropathy spectrum	en	Attribution	Inserm Orphanet
Combined oxidative phosphorylation defect type 23	en	Attribution	Inserm Orphanet
Combined oxidative phosphorylation defect type 24	en	Attribution	Inserm Orphanet
Combined oxidative phosphorylation defect type 25 (disorder)	en	Attribution	Inserm Orphanet
Combined oxidative phosphorylation defect type 26	en	Attribution	Inserm Orphanet
Combined oxidative phosphorylation defect type 27	en	Attribution	Inserm Orphanet
Combined oxidative phosphorylation defect type 28	en	Attribution	Inserm Orphanet
Combined oxidative phosphorylation defect type 29	en	Attribution	Inserm Orphanet
Combined oxidative phosphorylation defect type 30	en	Attribution	Inserm Orphanet
Combined oxidative phosphorylation defect type 39	en	Attribution	Inserm Orphanet
Combined pituitary hormone deficiency genetic form (disorder)	en	Attribution	Inserm Orphanet
Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome	en	Attribution	Inserm Orphanet
Complete septate uterus (disorder)	en	Attribution	Inserm Orphanet
Complex lethal osteochondrodysplasia (disorder)	en	Attribution	Inserm Orphanet
Component of oligomeric golgi complex 1 congenital disorder of glycosylation (disorder)	en	Attribution	Inserm Orphanet
COG2-related congenital disorder of glycosylation	en	Attribution	Inserm Orphanet
Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder)	en	Attribution	Inserm Orphanet
Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder)	en	Attribution	Inserm Orphanet
Component of oligomeric golgi complex 7 congenital disorder of glycosylation (disorder)	en	Attribution	Inserm Orphanet
Component of oligomeric golgi complex 8 congenital disorder of glycosylation (disorder)	en	Attribution	Inserm Orphanet
Composite Hodgkin and non-Hodgkin lymphoma (disorder)	en	Attribution	Inserm Orphanet
Cone dystrophy with supernormal rod response (disorder)	en	Attribution	Inserm Orphanet
Confetti-like atrophic macular lesions of skin (disorder)	en	Attribution	Inserm Orphanet
Congenital abnormal retraction of eyelid (disorder)	en	Attribution	Inserm Orphanet
Congenital absence of half of thyroid (disorder)	en	Attribution	Inserm Orphanet
Congenital accessory tissue of tricuspid valve	en	Attribution	Inserm Orphanet
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)	en	Attribution	Inserm Orphanet
Congenital alpha-2-antiplasmin deficiency (disorder)	en	Attribution	Inserm Orphanet
Congenital amegakaryocytic thrombocytopenia (disorder)	en	Attribution	Inserm Orphanet
Congenital amyoplasia (disorder)	en	Attribution	Inserm Orphanet
Congenital analbuminemia (disorder)	en	Attribution	Inserm Orphanet
Congenital anomaly of fourth branchial cleft	en	Attribution	Inserm Orphanet
Congenital anomaly of second branchial cleft	en	Attribution	Inserm Orphanet
Congenital anomaly of third branchial cleft	en	Attribution	Inserm Orphanet
Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome	en	Attribution	Inserm Orphanet
Congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland (disorder)	en	Attribution	Inserm Orphanet
Congenital atresia of inferior vena cava without azygos continuation (disorder)	en	Attribution	Inserm Orphanet
Congenital autosomal recessive small-platelet thrombocytopenia (disorder)	en	Attribution	Inserm Orphanet
Congenital axonal neuropathy with encephalopathy	en	Attribution	Inserm Orphanet
Congenital azygos continuation of inferior vena cava (disorder)	en	Attribution	Inserm Orphanet
Congenital bile acid synthesis defect type 3 (disorder)	en	Attribution	Inserm Orphanet
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome	en	Attribution	Inserm Orphanet
Congenital cardiac diverticulum (disorder)	en	Attribution	Inserm Orphanet
Congenital cataract microcornea with corneal opacity	en	Attribution	Inserm Orphanet
Congenital cataract with ataxia and deafness syndrome (disorder)	en	Attribution	Inserm Orphanet
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder)	en	Attribution	Inserm Orphanet
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder)	en	Attribution	Inserm Orphanet
Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome	en	Attribution	Inserm Orphanet
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)	en	Attribution	Inserm Orphanet
Congenital cochleovestibular malformation	en	Attribution	Inserm Orphanet
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome	en	Attribution	Inserm Orphanet
Congenital cyst of nasolacrimal duct (disorder)	en	Attribution	Inserm Orphanet
Congenital deficiency of cochlear nerve (disorder)	en	Attribution	Inserm Orphanet
Congenital disorder of glycosylation type 1i	en	Attribution	Inserm Orphanet
Congenital duplication of nose (disorder)	en	Attribution	Inserm Orphanet
Congenital dyserythropoietic anemia type IV (disorder)	en	Attribution	Inserm Orphanet
Congenital dysplasia of supratip of nose (disorder)	en	Attribution	Inserm Orphanet
Congenital epithelial dysplasia of intestine (disorder)	en	Attribution	Inserm Orphanet
Congenital fistula of commissure of lips	en	Attribution	Inserm Orphanet
Congenital generalized hypercontractile muscle stiffness syndrome	en	Attribution	Inserm Orphanet
Sonoda syndrome	en	Attribution	Inserm Orphanet
Congenital hydrocephalus, low insertion of umbilicus syndrome	en	Attribution	Inserm Orphanet
Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation (disorder)	en	Attribution	Inserm Orphanet
Congenital hypothyroidism due to transplacental passage of maternal thyroid stimulating hormone binding inhibitory antibody (disorder)	en	Attribution	Inserm Orphanet
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)	en	Attribution	Inserm Orphanet
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)	en	Attribution	Inserm Orphanet
Congenital infection caused by Epstein-Barr virus (disorder)	en	Attribution	Inserm Orphanet
Congenital infection caused by Herpes virus (disorder)	en	Attribution	Inserm Orphanet
Congenital infection caused by enterovirus (disorder)	en	Attribution	Inserm Orphanet

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Reference Sets

Reference set descriptor

GB English

US English

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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)