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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)

4145 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
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability with plagiocephaly syndrome (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability with seizure and psoriasis syndrome (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome en Attribution Inserm Orphanet
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome en Attribution Inserm Orphanet
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome en Attribution Inserm Orphanet
X-linked intellectual disability, hypotonia, movement disorder syndrome en Attribution Inserm Orphanet
X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) en Attribution Inserm Orphanet
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 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 parkinsonism with spasticity syndrome (disorder) 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 severe congenital neutropenia (disorder) en Attribution Inserm Orphanet
X-linked sideroblastic anemia with spinocerebellar ataxia 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 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
Xq12-q13.3 duplication syndrome (disorder) en Attribution Inserm Orphanet
Xq25 microduplication syndrome en Attribution Inserm Orphanet
Young onset Parkinson disease (disorder) en Attribution Inserm Orphanet
Zellweger-like syndrome without peroxisomal anomaly (disorder) en Attribution Inserm Orphanet
NDE1-related microhydranencephaly en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

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