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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
X-linked intellectual disability, short stature, overweight syndrome	en	Attribution	Inserm Orphanet
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	en	Attribution	Inserm Orphanet
X-linked lethal multiple pterygium syndrome (disorder)	en	Attribution	Inserm Orphanet
X-linked lissencephaly with abnormal genitalia syndrome	en	Attribution	Inserm Orphanet
X-linked lymphoproliferative disease due to SH2D1A deficiency (disorder)	en	Attribution	Inserm Orphanet
X-linked lymphoproliferative disease due to XIAP deficiency	en	Attribution	Inserm Orphanet
X-linked mandibulofacial dysostosis (disorder)	en	Attribution	Inserm Orphanet
X-linked mendelian susceptibility to mycobacterial disease (disorder)	en	Attribution	Inserm Orphanet
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)	en	Attribution	Inserm Orphanet
X-linked myopathy with excessive autophagy (disorder)	en	Attribution	Inserm Orphanet
X-linked myopathy with postural muscle atrophy (disorder)	en	Attribution	Inserm Orphanet
X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)	en	Attribution	Inserm Orphanet
X-linked neurodegenerative syndrome Bertini type (disorder)	en	Attribution	Inserm Orphanet
X-linked neurodegenerative syndrome Hamel type (disorder)	en	Attribution	Inserm Orphanet
X-linked non progressive cerebellar ataxia (disorder)	en	Attribution	Inserm Orphanet
X-linked osteoporosis with fractures	en	Attribution	Inserm Orphanet
X-linked parkinsonism with spasticity syndrome (disorder)	en	Attribution	Inserm Orphanet
X-linked progressive cerebellar ataxia	en	Attribution	Inserm Orphanet
X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder)	en	Attribution	Inserm Orphanet
X-linked retinal dysplasia (disorder)	en	Attribution	Inserm Orphanet
X-linked scapuloperoneal muscular dystrophy (disorder)	en	Attribution	Inserm Orphanet
X-linked severe congenital neutropenia (disorder)	en	Attribution	Inserm Orphanet
X-linked severe syndromic thoracic aortic aneurysm and dissection (disorder)	en	Attribution	Inserm Orphanet
X-linked sideroblastic anemia with spinocerebellar ataxia	en	Attribution	Inserm Orphanet
X-linked spastic paraplegia type 16 (disorder)	en	Attribution	Inserm Orphanet
X-linked spastic paraplegia type 2 (disorder)	en	Attribution	Inserm Orphanet
X-linked spastic paraplegia type 34	en	Attribution	Inserm Orphanet
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	en	Attribution	Inserm Orphanet
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	en	Attribution	Inserm Orphanet
X-linked spinocerebellar ataxia type 3 (disorder)	en	Attribution	Inserm Orphanet
X-linked spinocerebellar ataxia type 4 (disorder)	en	Attribution	Inserm Orphanet
X-linked spondyloepimetaphyseal dysplasia (disorder)	en	Attribution	Inserm Orphanet
XK aprosencephaly syndrome (disorder)	en	Attribution	Inserm Orphanet
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	en	Attribution	Inserm Orphanet
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	en	Attribution	Inserm Orphanet
Xp21 deletion syndrome (disorder)	en	Attribution	Inserm Orphanet
Xp22.13p22.2 duplication syndrome	en	Attribution	Inserm Orphanet
Xq12-q13.3 duplication syndrome (disorder)	en	Attribution	Inserm Orphanet
Xq25 microduplication syndrome	en	Attribution	Inserm Orphanet
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation	en	Attribution	Inserm Orphanet
Young adult-onset distal hereditary motor neuropathy	en	Attribution	Inserm Orphanet
Young onset Parkinson disease (disorder)	en	Attribution	Inserm Orphanet
Zechi Ceide syndrome	en	Attribution	Inserm Orphanet
Zellweger-like syndrome without peroxisomal anomaly (disorder)	en	Attribution	Inserm Orphanet
de Barsey syndrome	en	Attribution	Inserm Orphanet
MIR140-related spondyloepiphyseal dysplasia	en	Attribution	Inserm Orphanet
NDE1-related microhydranencephaly	en	Attribution	Inserm Orphanet

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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)