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
Palmoplantar keratoderma with clinodactyly syndrome (disorder)	en	Attribution	Inserm Orphanet
Palmoplantar keratoderma with deafness syndrome (disorder)	en	Attribution	Inserm Orphanet
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder)	en	Attribution	Inserm Orphanet
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)	en	Attribution	Inserm Orphanet
Pancreatic agenesis, holoprosencephaly syndrome	en	Attribution	Inserm Orphanet
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder)	en	Attribution	Inserm Orphanet
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	en	Attribution	Inserm Orphanet
Papillary glioneuronal tumor of brain (disorder)	en	Attribution	Inserm Orphanet
Papillary intralymphatic angioendothelioma (disorder)	en	Attribution	Inserm Orphanet
Papular elastorrhexis (disorder)	en	Attribution	Inserm Orphanet
Papular mucinosis of infancy (disorder)	en	Attribution	Inserm Orphanet
Papular xanthoma	en	Attribution	Inserm Orphanet
Paraganglioma and gastric stromal sarcoma syndrome (disorder)	en	Attribution	Inserm Orphanet
Paraneoplastic uveitis (disorder)	en	Attribution	Inserm Orphanet
Paraparetic variant of Guillain-Barré syndrome	en	Attribution	Inserm Orphanet
Parkinsonism caused by cyanide	en	Attribution	Inserm Orphanet
Parkinsonism co-occurrent with dementia of Guadeloupe (disorder)	en	Attribution	Inserm Orphanet
Parkinsonism with polyneuropathy (disorder)	en	Attribution	Inserm Orphanet
Paroxysmal exertion-induced dyskinesia (disorder)	en	Attribution	Inserm Orphanet
Partial agenesis of pancreas (disorder)	en	Attribution	Inserm Orphanet
Partial chromosome Y deletion (disorder)	en	Attribution	Inserm Orphanet
Partial defect of atrioventricular canal (disorder)	en	Attribution	Inserm Orphanet
Partially involuting congenital hemangioma (disorder)	en	Attribution	Inserm Orphanet
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder)	en	Attribution	Inserm Orphanet
Paternal 20q13.2q13.3 microdeletion syndrome (disorder)	en	Attribution	Inserm Orphanet
Paternal uniparental disomy of chromosome 1 (disorder)	en	Attribution	Inserm Orphanet
Paternal uniparental disomy of chromosome 13	en	Attribution	Inserm Orphanet
Paternal uniparental disomy of chromosome 20 (disorder)	en	Attribution	Inserm Orphanet
Paternal uniparental disomy of chromosome 21 (disorder)	en	Attribution	Inserm Orphanet
Paternal uniparental disomy of chromosome 5 (disorder)	en	Attribution	Inserm Orphanet
Paternal uniparental disomy of chromosome 6	en	Attribution	Inserm Orphanet
Paternal uniparental disomy of chromosome 7	en	Attribution	Inserm Orphanet
Patterson Stevenson Fontaine syndrome (disorder)	en	Attribution	Inserm Orphanet
Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder)	en	Attribution	Inserm Orphanet
Pediatric arterial ischemic stroke	en	Attribution	Inserm Orphanet
Pediatric collagenous gastritis	en	Attribution	Inserm Orphanet
Pediatric hepatocellular carcinoma	en	Attribution	Inserm Orphanet
Paediatric multiple sclerosis	en	Attribution	Inserm Orphanet
Peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome (disorder)	en	Attribution	Inserm Orphanet
Pelizaeus Merzbacher like disease (disorder)	en	Attribution	Inserm Orphanet
Pelvis shoulder dysplasia (disorder)	en	Attribution	Inserm Orphanet
Pelviscapular dysplasia	en	Attribution	Inserm Orphanet
Pericardial and diaphragmatic defect syndrome (disorder)	en	Attribution	Inserm Orphanet
Perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus syndrome (disorder)	en	Attribution	Inserm Orphanet
Periodic fever and aphthous stomatitis with pharyngitis and cervical lymphadenitis syndrome (disorder)	en	Attribution	Inserm Orphanet
Periodic fever, infantile enterocolitis, autoinflammatory syndrome	en	Attribution	Inserm Orphanet
Perioral myoclonia with absences (disorder)	en	Attribution	Inserm Orphanet
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)	en	Attribution	Inserm Orphanet
PMP2-related Charcot-Marie-Tooth disease type 1	en	Attribution	Inserm Orphanet
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)	en	Attribution	Inserm Orphanet
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder)	en	Attribution	Inserm Orphanet
Perlman syndrome (disorder)	en	Attribution	Inserm Orphanet
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)	en	Attribution	Inserm Orphanet
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder)	en	Attribution	Inserm Orphanet
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder)	en	Attribution	Inserm Orphanet
Persistent left superior vena cava connecting through coronary sinus to left sided atrium	en	Attribution	Inserm Orphanet
Persistent placoid maculopathy (disorder)	en	Attribution	Inserm Orphanet
Persistent polyclonal B-cell lymphocytosis	en	Attribution	Inserm Orphanet
Phakomatosis pigmentokeratotica (disorder)	en	Attribution	Inserm Orphanet
Phalangeal microgeodic syndrome (disorder)	en	Attribution	Inserm Orphanet
Phocomelia Schinzel type (disorder)	en	Attribution	Inserm Orphanet
PDE4D haploinsufficiency syndrome	en	Attribution	Inserm Orphanet
Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder)	en	Attribution	Inserm Orphanet
Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder)	en	Attribution	Inserm Orphanet
Phosphoribosylpyrophosphate synthetase superactivity (disorder)	en	Attribution	Inserm Orphanet
Phyllodes tumor of prostate (disorder)	en	Attribution	Inserm Orphanet
Piebaldism (disorder)	en	Attribution	Inserm Orphanet
Pierpont syndrome (disorder)	en	Attribution	Inserm Orphanet
Pierre Robin sequence faciodigital anomaly syndrome (disorder)	en	Attribution	Inserm Orphanet
Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder)	en	Attribution	Inserm Orphanet
Pierson syndrome (disorder)	en	Attribution	Inserm Orphanet
PIEZO1-related generalised lymphatic dysplasia with non-immune hydrops fetalis	en	Attribution	Inserm Orphanet
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder)	en	Attribution	Inserm Orphanet
Pigmented paravenous retinochoroidal atrophy (disorder)	en	Attribution	Inserm Orphanet
Pili bifurcati (disorder)	en	Attribution	Inserm Orphanet
Pili torti onychodysplasia syndrome (disorder)	en	Attribution	Inserm Orphanet
Pili torti with developmental delay and neurological abnormality syndrome (disorder)	en	Attribution	Inserm Orphanet
Pilocytic astrocytoma	en	Attribution	Inserm Orphanet
Pineocytoma	en	Attribution	Inserm Orphanet
Pituitary deficiency due to empty sella turcica syndrome (disorder)	en	Attribution	Inserm Orphanet
Pituitary stalk interruption syndrome (disorder)	en	Attribution	Inserm Orphanet
PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome	en	Attribution	Inserm Orphanet
Pneumonia caused by Pseudomonas aeruginosa (disorder)	en	Attribution	Inserm Orphanet
Poisoning caused by monochloroacetic acid (disorder)	en	Attribution	Inserm Orphanet
Polyclonal hyperviscosity syndrome	en	Attribution	Inserm Orphanet
Polydactyly myopia syndrome (disorder)	en	Attribution	Inserm Orphanet
Polydactyly of index finger (disorder)	en	Attribution	Inserm Orphanet
Polydactyly of triphalangeal thumb (disorder)	en	Attribution	Inserm Orphanet
Polyendocrine polyneuropathy syndrome (disorder)	en	Attribution	Inserm Orphanet
Polyglucosan body myopathy type 2	en	Attribution	Inserm Orphanet
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)	en	Attribution	Inserm Orphanet
Polymicrogyria due to TUBB2B mutation	en	Attribution	Inserm Orphanet
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder)	en	Attribution	Inserm Orphanet
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder)	en	Attribution	Inserm Orphanet
Polysyndactyly and cardiac malformation syndrome (disorder)	en	Attribution	Inserm Orphanet
Polyvalvular heart disease syndrome (disorder)	en	Attribution	Inserm Orphanet
Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder)	en	Attribution	Inserm Orphanet
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder)	en	Attribution	Inserm Orphanet
Porokeratosis plantaris palmaris et disseminata (disorder)	en	Attribution	Inserm Orphanet
Postaxial polydactyly and intellectual disability syndrome (disorder)	en	Attribution	Inserm Orphanet
Postaxial polydactyly type A (disorder)	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)