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
Scalp defect postaxial polydactyly syndrome (disorder)	en	Attribution	Inserm Orphanet
Scalp, ear, nipple syndrome (disorder)	en	Attribution	Inserm Orphanet
Scar of eye due to and following filtration operation for glaucoma (disorder)	en	Attribution	Inserm Orphanet
Scedosporiosis (disorder)	en	Attribution	Inserm Orphanet
Schilbach Rott syndrome (disorder)	en	Attribution	Inserm Orphanet
Schimke immuno-osseous dysplasia (disorder)	en	Attribution	Inserm Orphanet
Schisis association syndrome (disorder)	en	Attribution	Inserm Orphanet
Scleroderma	en	Attribution	Inserm Orphanet
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome	en	Attribution	Inserm Orphanet
Seaver Cassidy syndrome (disorder)	en	Attribution	Inserm Orphanet
Secondary intestinal lymphangiectasia	en	Attribution	Inserm Orphanet
Secondary pulmonary hemosiderosis (disorder)	en	Attribution	Inserm Orphanet
Secondary syringomyelia	en	Attribution	Inserm Orphanet
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome	en	Attribution	Inserm Orphanet
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)	en	Attribution	Inserm Orphanet
Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)	en	Attribution	Inserm Orphanet
Seizures, scoliosis, macrocephaly syndrome (disorder)	en	Attribution	Inserm Orphanet
Selective intrauterine growth restriction	en	Attribution	Inserm Orphanet
Self-healing collodion baby (disorder)	en	Attribution	Inserm Orphanet
Self-limited familial infantile epilepsy	en	Attribution	Inserm Orphanet
Self-limited familial neonatal-infantile epilepsy	en	Attribution	Inserm Orphanet
Semicircular canal dehiscence syndrome (disorder)	en	Attribution	Inserm Orphanet
Sensorineural deafness with dilated cardiomyopathy syndrome (disorder)	en	Attribution	Inserm Orphanet
Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)	en	Attribution	Inserm Orphanet
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder)	en	Attribution	Inserm Orphanet
Sepsis of premature infant (disorder)	en	Attribution	Inserm Orphanet
Serine biosynthesis pathway deficiency, infantile/juvenile form (disorder)	en	Attribution	Inserm Orphanet
Serotonin-producing neuroendocrine neoplasm of pancreas	en	Attribution	Inserm Orphanet
Serous carcinoma of body of uterus (disorder)	en	Attribution	Inserm Orphanet
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)	en	Attribution	Inserm Orphanet
Severe X-linked intellectual disability Gustavson type (disorder)	en	Attribution	Inserm Orphanet
Severe X-linked mitochondrial encephalomyopathy (disorder)	en	Attribution	Inserm Orphanet
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)	en	Attribution	Inserm Orphanet
Severe autosomal recessive macrothrombocytopenia (disorder)	en	Attribution	Inserm Orphanet
T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency	en	Attribution	Inserm Orphanet
Severe combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency	en	Attribution	Inserm Orphanet
Severe combined immunodeficiency due to CORO1A deficiency	en	Attribution	Inserm Orphanet
Severe combined immunodeficiency due to CTPS1 deficiency	en	Attribution	Inserm Orphanet
Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency (disorder)	en	Attribution	Inserm Orphanet
Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency (disorder)	en	Attribution	Inserm Orphanet
Severe combined immunodeficiency due to linker for activation of T cells deficiency (disorder)	en	Attribution	Inserm Orphanet
Severe combined immunodeficiency with hypereosinophilia (disorder)	en	Attribution	Inserm Orphanet
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)	en	Attribution	Inserm Orphanet
Severe congenital hypochromic anemia with ringed sideroblasts (disorder)	en	Attribution	Inserm Orphanet
Severe congenital nemaline myopathy	en	Attribution	Inserm Orphanet
Severe early childhood onset retinal dystrophy (disorder)	en	Attribution	Inserm Orphanet
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (disorder)	en	Attribution	Inserm Orphanet
Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (disorder)	en	Attribution	Inserm Orphanet
Severe generalized recessive dystrophic epidermolysis bullosa (disorder)	en	Attribution	Inserm Orphanet
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	en	Attribution	Inserm Orphanet
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	en	Attribution	Inserm Orphanet
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder)	en	Attribution	Inserm Orphanet
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder)	en	Attribution	Inserm Orphanet
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)	en	Attribution	Inserm Orphanet
Severe lateral tibial bowing with short stature	en	Attribution	Inserm Orphanet
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	en	Attribution	Inserm Orphanet
Severe myopia, generalized joint laxity, short stature syndrome	en	Attribution	Inserm Orphanet
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract	en	Attribution	Inserm Orphanet
Severe oculo-renal-cerebellar syndrome (disorder)	en	Attribution	Inserm Orphanet
Severe primary trimethylaminuria (disorder)	en	Attribution	Inserm Orphanet
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder)	en	Attribution	Inserm Orphanet
Short fifth metacarpal insulin resistance syndrome (disorder)	en	Attribution	Inserm Orphanet
Short rib polydactyly syndrome type I (disorder)	en	Attribution	Inserm Orphanet
Short rib polydactyly syndrome type 5	en	Attribution	Inserm Orphanet
Short stature Brussels type (disorder)	en	Attribution	Inserm Orphanet
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)	en	Attribution	Inserm Orphanet
Short stature due to growth hormone secretagogue receptor deficiency	en	Attribution	Inserm Orphanet
Short stature due to primary acid labile subunit deficiency (disorder)	en	Attribution	Inserm Orphanet
SHOX-related short stature	en	Attribution	Inserm Orphanet
Short stature locking fingers syndrome (disorder)	en	Attribution	Inserm Orphanet
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder)	en	Attribution	Inserm Orphanet
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)	en	Attribution	Inserm Orphanet
Short stature with valvular heart disease and characteristic facies syndrome (disorder)	en	Attribution	Inserm Orphanet
Short stature with webbed neck and congenital heart disease syndrome (disorder)	en	Attribution	Inserm Orphanet
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	en	Attribution	Inserm Orphanet
Short stature, advanced bone age, early-onset osteoarthritis syndrome	en	Attribution	Inserm Orphanet
Short stature, brachydactyly, obesity, global developmental delay syndrome	en	Attribution	Inserm Orphanet
Short stature, developmental delay, congenital heart defect syndrome	en	Attribution	Inserm Orphanet
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)	en	Attribution	Inserm Orphanet
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	en	Attribution	Inserm Orphanet
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome	en	Attribution	Inserm Orphanet
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder)	en	Attribution	Inserm Orphanet
Short stature, wormian bones, dextrocardia syndrome	en	Attribution	Inserm Orphanet
Short tarsus with absence of lower eyelashes syndrome (disorder)	en	Attribution	Inserm Orphanet
Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing syndrome (disorder)	en	Attribution	Inserm Orphanet
Shprintzen Goldberg craniosynostosis syndrome (disorder)	en	Attribution	Inserm Orphanet
Shprintzen Goldberg omphalocele syndrome (disorder)	en	Attribution	Inserm Orphanet
Sialidosis type 1 (disorder)	en	Attribution	Inserm Orphanet
Siegler Brewer Carey syndrome (disorder)	en	Attribution	Inserm Orphanet
STAT3-related early-onset multisystem autoimmune disease	en	Attribution	Inserm Orphanet
Simple cryoglobulinemia (disorder)	en	Attribution	Inserm Orphanet
Sinoatrial node dysfunction and deafness	en	Attribution	Inserm Orphanet
SCARF syndrome	en	Attribution	Inserm Orphanet
Skeletal dysplasia brachydactyly syndrome	en	Attribution	Inserm Orphanet
Skeletal dysplasia with epilepsy and short stature syndrome (disorder)	en	Attribution	Inserm Orphanet
Skeletal dysplasia with intellectual disability syndrome (disorder)	en	Attribution	Inserm Orphanet
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome	en	Attribution	Inserm Orphanet
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)	en	Attribution	Inserm Orphanet
X small rings	en	Attribution	Inserm Orphanet
Smith McCort dysplasia (disorder)	en	Attribution	Inserm Orphanet
Smoldering systemic mastocytosis	en	Attribution	Inserm Orphanet

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Reference Sets

Reference set descriptor

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)