FHIR © HL7.org | Server Home | FHIR Server FHIR Server 4.0.3 | FHIR Version n/a User: [n/a]

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
10q22.3q23.3 microdeletion syndrome	en	Attribution	Inserm Orphanet
10q22.3q23.3 microduplication syndrome (disorder)	en	Attribution	Inserm Orphanet
11p15.4 microduplication syndrome (disorder)	en	Attribution	Inserm Orphanet
11q22.2q22.3 microdeletion syndrome	en	Attribution	Inserm Orphanet
12p12.1 microdeletion syndrome	en	Attribution	Inserm Orphanet
12q14 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
12q15q21.1 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
13q12.3 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
14q partial distal trisomy syndrome	en	Attribution	Inserm Orphanet
14q11.2 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
14q11.2 microduplication syndrome (disorder)	en	Attribution	Inserm Orphanet
14q12 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
14q22q23 microdeletion syndrome	en	Attribution	Inserm Orphanet
14q24.1q24.3 microdeletion syndrome	en	Attribution	Inserm Orphanet
14q32 duplication syndrome	en	Attribution	Inserm Orphanet
15q overgrowth syndrome	en	Attribution	Inserm Orphanet
15q11.2 microdeletion syndrome	en	Attribution	Inserm Orphanet
15q11q13 microduplication syndrome (disorder)	en	Attribution	Inserm Orphanet
15q14 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
16p11.2p12.2 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
16p11.2p12.2 microduplication syndrome	en	Attribution	Inserm Orphanet
16p12.1p12.3 triplication syndrome (disorder)	en	Attribution	Inserm Orphanet
16p13.11 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
16p13.11 microduplication syndrome (disorder)	en	Attribution	Inserm Orphanet
16p13.3 microduplication syndrome	en	Attribution	Inserm Orphanet
16q24.1 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
16q24.3 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
17p11.2 microduplication syndrome (disorder)	en	Attribution	Inserm Orphanet
17p13.3 microduplication syndrome (disorder)	en	Attribution	Inserm Orphanet
17q11.2 microduplication syndrome (disorder)	en	Attribution	Inserm Orphanet
17q12 microdeletion syndrome	en	Attribution	Inserm Orphanet
17q12 microduplication syndrome	en	Attribution	Inserm Orphanet
17q21.31 microduplication syndrome (disorder)	en	Attribution	Inserm Orphanet
17q23.1q23.2 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
17q24.2 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
19p13.12 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
19p13.13 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
19p13.3 microduplication syndrome (disorder)	en	Attribution	Inserm Orphanet
19q13.11 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
1p21.3 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
1p31p32 microdeletion syndrome	en	Attribution	Inserm Orphanet
1p35.2 microdeletion syndrome	en	Attribution	Inserm Orphanet
1q21.1 microduplication syndrome (disorder)	en	Attribution	Inserm Orphanet
1q41q42 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
1q44 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
2-aminoadipic 2-oxoadipic aciduria (disorder)	en	Attribution	Inserm Orphanet
2-methyl-3-hydroxybutyric aciduria (disorder)	en	Attribution	Inserm Orphanet
2-methylbutyryl-coenzyme A dehydrogenase deficiency disease	en	Attribution	Inserm Orphanet
20p partial trisomy syndrome	en	Attribution	Inserm Orphanet
20p12.3 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
20p13 microdeletion syndrome	en	Attribution	Inserm Orphanet
20q11.2 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
20q11.2 microduplication syndrome	en	Attribution	Inserm Orphanet
20q13.33 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
21q22.11q22.12 microdeletion syndrome	en	Attribution	Inserm Orphanet
22q11.2 deletion syndrome (disorder)	en	Attribution	Inserm Orphanet
22q11.2 duplication syndrome (disorder)	en	Attribution	Inserm Orphanet
22q13.3 deletion syndrome	en	Attribution	Inserm Orphanet
2p13.2 microdeletion syndrome	en	Attribution	Inserm Orphanet
2p15p16.1 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
2p21 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
2p21 microdeletion syndrome without cystinuria (disorder)	en	Attribution	Inserm Orphanet
2q23.1 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
2q23.1 microduplication syndrome (disorder)	en	Attribution	Inserm Orphanet
2q24 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
2q31.1 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
2q32q33 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency	en	Attribution	Inserm Orphanet
3-methylglutaconic aciduria type 7 (disorder)	en	Attribution	Inserm Orphanet
3-methylglutaconic aciduria type 8	en	Attribution	Inserm Orphanet
3-methylglutaconic aciduria type 9	en	Attribution	Inserm Orphanet
MEGDEL syndrome	en	Attribution	Inserm Orphanet
3p25.3 deletion syndrome (disorder)	en	Attribution	Inserm Orphanet
3q13 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
3q26 microduplication syndrome	en	Attribution	Inserm Orphanet
3q26q27 microdeletion syndrome	en	Attribution	Inserm Orphanet
3q27.3 microdeletion syndrome	en	Attribution	Inserm Orphanet
3q29 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
46,XX disorder of sex development with anorectal anomalies syndrome (disorder)	en	Attribution	Inserm Orphanet
46,XX disorder of sex development with skeletal anomalies syndrome (disorder)	en	Attribution	Inserm Orphanet
46,XX ovarian dysgenesis, short stature syndrome (disorder)	en	Attribution	Inserm Orphanet
46,XX ovotesticular disorder of sex development (disorder)	en	Attribution	Inserm Orphanet
46,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder)	en	Attribution	Inserm Orphanet
46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder)	en	Attribution	Inserm Orphanet
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome	en	Attribution	Inserm Orphanet
46,XY ovotesticular disorder of sex development	en	Attribution	Inserm Orphanet
46,XY partial gonadal dysgenesis (disorder)	en	Attribution	Inserm Orphanet
48,XYYY syndrome (disorder)	en	Attribution	Inserm Orphanet
49,XXXYY syndrome	en	Attribution	Inserm Orphanet
49,XYYYY syndrome (disorder)	en	Attribution	Inserm Orphanet
4H leukodystrophy (disorder)	en	Attribution	Inserm Orphanet
4p16.3 microduplication syndrome (disorder)	en	Attribution	Inserm Orphanet
4q21 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
4q25 proximal deletion syndrome	en	Attribution	Inserm Orphanet
5-amino-4-imidazole carboxamide ribosiduria (disorder)	en	Attribution	Inserm Orphanet
5p13 microduplication syndrome (disorder)	en	Attribution	Inserm Orphanet
5q14.3 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
5q35 microduplication syndrome (disorder)	en	Attribution	Inserm Orphanet
6p22 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
6q terminal deletion syndrome (disorder)	en	Attribution	Inserm Orphanet
6q25 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet

Page 1 of 53 Next End

Reference Sets

Reference set descriptor

Description inactivation indicator reference set

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)