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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)

5247 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
Progressive retinal dystrophy due to retinol transport defect (disorder) en Attribution Inserm Orphanet
Progressive scapulohumeroperoneal distal myopathy (disorder) en Attribution Inserm Orphanet
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome (disorder) en Attribution Inserm Orphanet
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome en Attribution Inserm Orphanet
Progressive supranuclear palsy en Attribution Inserm Orphanet
PCNA-related progressive neurodegenerative photosensitivity syndrome en Attribution Inserm Orphanet
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) en Attribution Inserm Orphanet
POGLUT1-related limb girdle muscular dystrophy R21 en Attribution Inserm Orphanet
Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder) en Attribution Inserm Orphanet
PRKAR1B-related neurodegenerative dementia with intermediate filaments en Attribution Inserm Orphanet
Proteus like syndrome (disorder) en Attribution Inserm Orphanet
Proteus syndrome en Attribution Inserm Orphanet
PCDH19 clustering epilepsy en Attribution Inserm Orphanet
Proton pump inhibitor responsive eosinophilic esophagitis en Attribution Inserm Orphanet
Proximal 16p11.2 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
Proximal 16p11.2 microduplication syndrome (disorder) en Attribution Inserm Orphanet
Symphalangism Cushing type en Attribution Inserm Orphanet
Proximal myopathy with extrapyramidal signs en Attribution Inserm Orphanet
Proximal myopathy with focal depletion of mitochondria en Attribution Inserm Orphanet
Proximal myotonic myopathy (disorder) en Attribution Inserm Orphanet
Prune exopolyphosphatase 1-related neurological syndrome (disorder) en Attribution Inserm Orphanet
Pseudo Meigs syndrome (disorder) en Attribution Inserm Orphanet
Pseudo von Willebrand disease en Attribution Inserm Orphanet
Pseudoaminopterin syndrome (disorder) en Attribution Inserm Orphanet
Pseudohypoparathyroidism en Attribution Inserm Orphanet
Pseudohypoparathyroidism type I B en Attribution Inserm Orphanet
Pseudohypoparathyroidism type II en Attribution Inserm Orphanet
Pseudoleprechaunism syndrome Patterson type (disorder) en Attribution Inserm Orphanet
Pseudoprogeria syndrome (disorder) en Attribution Inserm Orphanet
Pseudounicornuate uterus (disorder) en Attribution Inserm Orphanet
Pseudoxanthoma elasticum-like papillary dermal elastolysis en Attribution Inserm Orphanet
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa (disorder) en Attribution Inserm Orphanet
PsAPASH syndrome en Attribution Inserm Orphanet
Psychogenic movement disorder (disorder) en Attribution Inserm Orphanet
Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder) en Attribution Inserm Orphanet
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder) en Attribution Inserm Orphanet
Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder) en Attribution Inserm Orphanet
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) en Attribution Inserm Orphanet
Ptosis and vocal cord paralysis syndrome (disorder) en Attribution Inserm Orphanet
Ptosis, strabismus, ectopic pupil syndrome (disorder) en Attribution Inserm Orphanet
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) en Attribution Inserm Orphanet
Puerto Rican infant hypotonia syndrome (disorder) en Attribution Inserm Orphanet
Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome en Attribution Inserm Orphanet
Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder) en Attribution Inserm Orphanet
Pulmonary valve agenesis, intact ventricular septum, persistent ductus arteriosus syndrome (disorder) en Attribution Inserm Orphanet
Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome (disorder) en Attribution Inserm Orphanet
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder) en Attribution Inserm Orphanet
Pumilio RNA binding family member 1-related cerebellar ataxia (disorder) en Attribution Inserm Orphanet
Punctate acrokeratoderma freckle-like pigmentation en Attribution Inserm Orphanet
Punctate palmoplantar keratoderma type 1 (disorder) en Attribution Inserm Orphanet
Punctate palmoplantar keratoderma type 2 (disorder) en Attribution Inserm Orphanet
Pure mitochondrial myopathy (disorder) en Attribution Inserm Orphanet
Purine rich element binding protein A syndrome (disorder) en Attribution Inserm Orphanet
Pyknoachondrogenesis (disorder) en Attribution Inserm Orphanet
Pyoderma gangrenosum, acne, hidradenitis suppurativa, ankylosing spondylitis syndrome (disorder) en Attribution Inserm Orphanet
Pyoderma gangrenosum, acne, suppurative hidradenitis syndrome (disorder) en Attribution Inserm Orphanet
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder) en Attribution Inserm Orphanet
PAPASH syndrome en Attribution Inserm Orphanet
Pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy (disorder) en Attribution International League Against Epilepsy
PYCR2-related microcephaly, progressive leucoencephalopathy en Attribution Inserm Orphanet
RAS-associated autoimmune leukoproliferative disease (disorder) en Attribution Inserm Orphanet
RELA fusion-positive supratentorial ependymoma (disorder) en Attribution Inserm Orphanet
Radial deficiency, tibial hypoplasia syndrome en Attribution Inserm Orphanet
Schmitt Gillenwater Kelly syndrome en Attribution Inserm Orphanet
Radio-renal syndrome (disorder) en Attribution Inserm Orphanet
RIDDLE syndrome en Attribution Inserm Orphanet
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) en Attribution Inserm Orphanet
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) en Attribution Inserm Orphanet
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) en Attribution Inserm Orphanet
Raine dysplasia (disorder) en Attribution Inserm Orphanet
Ramos Arroyo syndrome (disorder) en Attribution Inserm Orphanet
Rapid-onset childhood obesity, hypothalamic dysfunction, hypoventilation, autonomic dysregulation syndrome (disorder) en Attribution Inserm Orphanet
Rare isolated myopia en Attribution Inserm Orphanet
Rare non-syndromic intellectual disability (disorder) en Attribution Inserm Orphanet
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) en Attribution Inserm Orphanet
Recessive mitochondrial ataxia syndrome (disorder) en Attribution Inserm Orphanet
Recombinant chromosome 8 syndrome (disorder) en Attribution Inserm Orphanet
Recurrent Neisseria infection due to factor D deficiency en Attribution Inserm Orphanet
Recurrent hepatitis C virus induced liver disease following liver transplant en Attribution Inserm Orphanet
Recurrent idiopathic neuroretinitis (disorder) en Attribution Inserm Orphanet
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Refractory celiac disease en Attribution Inserm Orphanet
Regressive spondylometaphyseal dysplasia en Attribution Inserm Orphanet
Renal caliceal diverticuli and deafness syndrome (disorder) en Attribution Inserm Orphanet
Renal dysplasia with limb defect syndrome (disorder) en Attribution Inserm Orphanet
Renal hepatic pancreatic dysplasia (disorder) en Attribution Inserm Orphanet
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) en Attribution Inserm Orphanet
Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha en Attribution Inserm Orphanet
Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta en Attribution Inserm Orphanet
Reticular dystrophy of retinal pigment epithelium (disorder) en Attribution Inserm Orphanet
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis en Attribution Inserm Orphanet
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) en Attribution Inserm Orphanet
Retinal detachment and occipital encephalocele en Attribution Inserm Orphanet
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies en Attribution Inserm Orphanet
Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder) en Attribution Inserm Orphanet
Retinal macular dystrophy type 2 en Attribution Inserm Orphanet
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations en Attribution Inserm Orphanet
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome en Attribution Inserm Orphanet
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) en Attribution Inserm Orphanet
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

Description inactivation indicator reference set

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