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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)

2698 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 myoclonic epilepsy type 9 en Attribution Inserm Orphanet
Progressive non-infectious anterior vertebral fusion (disorder) en Attribution Inserm Orphanet
Progressive osseous heteroplasia (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
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
Proteus like syndrome (disorder) en Attribution Inserm Orphanet
Proximal 16p11.2 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
Symphalangism Cushing type 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
Pseudoaminopterin syndrome (disorder) 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
Pterygium colli with intellectual disability and digital anomaly 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
Pyknoachondrogenesis (disorder) en Attribution Inserm Orphanet
Pyoderma gangrenosum, acne, hidradenitis suppurativa, ankylosing spondylitis 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
RELA fusion-positive supratentorial ependymoma (disorder) en Attribution Inserm Orphanet
Schmitt Gillenwater Kelly syndrome en Attribution Inserm Orphanet
Radioulnar synostosis with microcephaly and scoliosis syndrome (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
Regressive spondylometaphyseal dysplasia 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
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome en Attribution Inserm Orphanet
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome en Attribution Inserm Orphanet
Rhizomelic dysplasia of Patterson Lowry type (disorder) en Attribution Inserm Orphanet
Richards-Rundle syndrome (disorder) en Attribution Inserm Orphanet
Ring chromosome 8 syndrome (disorder) en Attribution Inserm Orphanet
Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) 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
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
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
Scar of eye due to and following filtration operation for glaucoma (disorder) en Attribution Inserm Orphanet
Scedosporiosis (disorder) en Attribution Inserm Orphanet
Schisis association syndrome (disorder) en Attribution Inserm Orphanet
Scleroderma 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
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
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 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 CORO1A 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 congenital nemaline myopathy en Attribution Inserm Orphanet
Severe early childhood onset retinal dystrophy (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 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, hypotonia, strabismus, coarse face, planovalgus 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
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 with craniofacial anomalies and genital hypoplasia syndrome (disorder) en Attribution Inserm Orphanet
Short stature with valvular heart disease and characteristic facies 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

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Reference Sets

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