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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
Distal 7q11.23 microduplication syndrome (disorder)	en	Attribution	Inserm Orphanet
Distal Xq28 microduplication syndrome	en	Attribution	Inserm Orphanet
Distal anoctaminopathy	en	Attribution	Inserm Orphanet
Distal arthrogryposis syndrome	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 5D (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 hereditary motor neuropathy type 7	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 4q	en	Attribution	Inserm Orphanet
Distal monosomy 6p (disorder)	en	Attribution	Inserm Orphanet
Distal monosomy 7p syndrome (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 anterior tibial onset	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 nebulin myopathy	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 18q	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
Dobrow syndrome (disorder)	en	Attribution	Inserm Orphanet
Dominant beta-thalassemia (disorder)	en	Attribution	Inserm Orphanet
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis	en	Attribution	Inserm Orphanet
Double Y syndrome	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
Dravet syndrome	en	Attribution	Inserm Orphanet
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)	en	Attribution	Inserm Orphanet
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder)	en	Attribution	Inserm Orphanet
Duane anomaly, myopathy, scoliosis syndrome	en	Attribution	Inserm Orphanet
Duane retraction syndrome with congenital deafness	en	Attribution	Inserm Orphanet
Duplication of eyebrow and syndactyly syndrome	en	Attribution	Inserm Orphanet
Duplication of pituitary gland (disorder)	en	Attribution	Inserm Orphanet
Dyggve-Melchior-Clausen syndrome	en	Attribution	Inserm Orphanet
Dysequilibrium syndrome	en	Attribution	Inserm Orphanet
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder)	en	Attribution	Inserm Orphanet
Dysmorphism, short stature, deafness, disorder of sex development syndrome	en	Attribution	Inserm Orphanet
Dysplasia of head of femur Meyer type (disorder)	en	Attribution	Inserm Orphanet
Dysplastic cortical hyperostosis	en	Attribution	Inserm Orphanet
Dysplastic cortical hyperostosis (disorder)	en	Attribution	Inserm Orphanet
Dysplastic cortical hyperostosis Al-Gazali type	en	Attribution	Inserm Orphanet
Dysraphism, cleft lip and palate, limb reduction defect syndrome	en	Attribution	Inserm Orphanet
Dyssegmental dysplasia Silverman Handmaker type (disorder)	en	Attribution	Inserm Orphanet
Dysspondyloenchondromatosis (disorder)	en	Attribution	Inserm Orphanet
Dystonia 16 (disorder)	en	Attribution	Inserm Orphanet
Dystonia 28	en	Attribution	Inserm Orphanet
Dystonia aphonia syndrome (disorder)	en	Attribution	Inserm Orphanet
Dystrophic epidermolysis bullosa nails only (disorder)	en	Attribution	Inserm Orphanet
EN1-related dorsoventral syndrome	en	Attribution	Inserm Orphanet
Early onset parkinsonism and intellectual disability syndrome (disorder)	en	Attribution	Inserm Orphanet
Early-infantile developmental and epileptic encephalopathy	en	Attribution	International League Against Epilepsy
Early-onset Lafora body disease (disorder)	en	Attribution	Inserm Orphanet
Early-onset X-linked optic atrophy (disorder)	en	Attribution	Inserm Orphanet
Early-onset autoimmunity, autoinflammation, immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency (disorder)	en	Attribution	Inserm Orphanet
Early-onset calcifying leucoencephalopathy, skeletal dysplasia	en	Attribution	Inserm Orphanet
Early-onset epilepsy, intellectual disability, brain anomalies syndrome	en	Attribution	Inserm Orphanet
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	en	Attribution	Inserm Orphanet
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)	en	Attribution	Inserm Orphanet
Early-onset obesity, hyperphagia, severe developmental delay syndrome	en	Attribution	Inserm Orphanet
Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)	en	Attribution	Inserm Orphanet
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder)	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)