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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
Proximal myotonic myopathy (disorder) en Attribution Inserm Orphanet
Prune exopolyphosphatase 1-related neurological syndrome (disorder) en Attribution Inserm Orphanet
Pseudoaminopterin syndrome (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, 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, 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
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder) en Attribution Inserm Orphanet
PAPASH syndrome en Attribution Inserm Orphanet
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder) en Attribution Inserm Orphanet
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
Schmitt Gillenwater Kelly syndrome en Attribution Inserm Orphanet
Radio-renal syndrome (disorder) 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
Ramos Arroyo syndrome (disorder) en Attribution Inserm Orphanet
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) en Attribution Inserm Orphanet
Recombinant chromosome 8 syndrome (disorder) 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 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 ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder) en Attribution Inserm Orphanet
Retinal macular dystrophy type 2 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
Revesz syndrome (disorder) en Attribution Inserm Orphanet
Rhabdomyosarcoma of cervix uteri en Attribution Inserm Orphanet
Rhabdomyosarcoma of corpus uteri (disorder) en Attribution Inserm Orphanet
Vulvovaginal rhabdomyosarcoma en Attribution Inserm Orphanet
Rhizomelic dysplasia of Patterson Lowry type (disorder) en Attribution Inserm Orphanet
Rhizomelic syndrome Urbach type en Attribution Inserm Orphanet
Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy (disorder) en Attribution Inserm Orphanet
Richards-Rundle syndrome (disorder) en Attribution Inserm Orphanet
Ring chromosome 12 syndrome en Attribution Inserm Orphanet
Ring chromosome 13 syndrome (disorder) en Attribution Inserm Orphanet
Ring chromosome 15 syndrome en Attribution Inserm Orphanet
Ring chromosome 16 syndrome en Attribution Inserm Orphanet
Ring chromosome 19 syndrome en Attribution Inserm Orphanet
Ring chromosome 2 syndrome (disorder) en Attribution Inserm Orphanet
Ring chromosome 3 syndrome (disorder) en Attribution Inserm Orphanet
Ring chromosome 5 syndrome en Attribution Inserm Orphanet
Ring chromosome 6 syndrome (disorder) en Attribution Inserm Orphanet
Ring chromosome 7 syndrome (disorder) en Attribution Inserm Orphanet
Ring chromosome 8 syndrome (disorder) en Attribution Inserm Orphanet
Ring chromosome Y syndrome (disorder) en Attribution Inserm Orphanet
Ring dermoid of cornea (disorder) en Attribution Inserm Orphanet
Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) en Attribution Inserm Orphanet
Rippling muscle disease with myasthenia gravis (disorder) en Attribution Inserm Orphanet
Robin sequence and oligodactyly syndrome en Attribution Inserm Orphanet
Roch Leri mesosomatous lipomatosis (disorder) en Attribution Inserm Orphanet
Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome (disorder) en Attribution Inserm Orphanet
Rolandic epilepsy, speech dyspraxia syndrome (disorder) en Attribution Inserm Orphanet
Rombo syndrome (disorder) en Attribution Inserm Orphanet
Rosette-forming glioneuronal neoplasm en Attribution Inserm Orphanet
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder) en Attribution Inserm Orphanet
SIM1-related Prader-Willi-like syndrome en Attribution Inserm Orphanet
SIX homeobox 2-related frontonasal dysplasia (disorder) en Attribution Inserm Orphanet
SMARCA4-deficient undifferentiated neoplasm of thorax (disorder) en Attribution Inserm Orphanet
SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 (disorder) en Attribution Inserm Orphanet
SMARCA2-related blepharophimosis, intellectual disability syndrome en Attribution Inserm Orphanet
Saccular limited dorsal myeloschisis (disorder) en Attribution Inserm Orphanet
Sagliker syndrome (disorder) en Attribution Inserm Orphanet
Sanjad Sakati syndrome (disorder) en Attribution Inserm Orphanet
Satoyoshi syndrome en Attribution Inserm Orphanet
Scalp defect postaxial polydactyly syndrome (disorder) en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

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