FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.5  |  FHIR Version n/a  User: [n/a]

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
Congenital infection caused by enterovirus (disorder) en Attribution Inserm Orphanet
Congenital insensitivity to pain with severe intellectual disability (disorder) en Attribution Inserm Orphanet
Congenital insensitivity to pain, anosmia, neuropathic arthropathy en Attribution Inserm Orphanet
Congenital insensitivity to pain, hyperhidrosis, absence of cutaneous sensory innervation (disorder) en Attribution Inserm Orphanet
Congenital isolated adrenocorticotropic hormone deficiency (disorder) en Attribution Inserm Orphanet
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome en Attribution Inserm Orphanet
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder) en Attribution Inserm Orphanet
Congenital laryngotracheoesophageal cleft en Attribution Inserm Orphanet
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder) en Attribution Inserm Orphanet
Congenital microcephaly (disorder) en Attribution Inserm Orphanet
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) en Attribution Inserm Orphanet
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome (disorder) en Attribution Inserm Orphanet
Congenital myopathy with reduced type 2 muscle fibers en Attribution Inserm Orphanet
Congenital non-dysraphic lipoma of medulla of spinal cord (disorder) en Attribution Inserm Orphanet
Congenital non-syndromic anorectal malformation (disorder) en Attribution Inserm Orphanet
Congenital oculomotor nerve palsy (disorder) en Attribution Inserm Orphanet
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome en Attribution Inserm Orphanet
Congenital palsy of trochlear nerve (disorder) en Attribution Inserm Orphanet
Congenital peripapillary staphyloma en Attribution Inserm Orphanet
Congenital plasminogen activator inhibitor deficiency type 1 (disorder) en Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 1 (disorder) en Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 11 (disorder) en Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 12 en Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 13 en Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 14 en Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 2 (disorder) en Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 3 (disorder) en Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 4 (disorder) en Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 6 (disorder) en Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 7 (disorder) en Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 8 (disorder) en Attribution Inserm Orphanet
Congenital primary lymphedema of Gordon (disorder) en Attribution Inserm Orphanet
Congenital primary megaureter (disorder) en Attribution Inserm Orphanet
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Congenital retained medullary spinal cord en Attribution Inserm Orphanet
Congenital short bowel syndrome (disorder) en Attribution Inserm Orphanet
Congenital spinal dermal sinus (disorder) en Attribution Inserm Orphanet
Congenital straddling and overriding tricuspid valve (disorder) en Attribution Inserm Orphanet
Congenital suprabulbar paresis (disorder) en Attribution Inserm Orphanet
Congenital tubular duplication of esophagus (disorder) en Attribution Inserm Orphanet
Isolated asymmetric crying facies en Attribution Inserm Orphanet
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) en Attribution Inserm Orphanet
CNTNAP2-related developmental and epileptic encephalopathy en Attribution Inserm Orphanet
Corticobasal syndrome (disorder) en Attribution Inserm Orphanet
Crane Heise syndrome (disorder) en Attribution Inserm Orphanet
3C syndrome en Attribution Inserm Orphanet
Harrod syndrome en Attribution Inserm Orphanet
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Craniofrontonasal dysplasia (disorder) en Attribution Inserm Orphanet
Craniosynostosis, microretrognathia, severe intellectual disability syndrome en Attribution Inserm Orphanet
Craniotelencephalic dysplasia (disorder) en Attribution Inserm Orphanet
Cushing syndrome due to cortisol-producing adrenocortical adenoma (disorder) en Attribution Inserm Orphanet
Cutaneous collagenous vasculopathy (disorder) en Attribution Inserm Orphanet
Cutaneous leukocytoclastic angiitis (disorder) en Attribution Inserm Orphanet
CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome en Attribution Inserm Orphanet
Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
Cystadenoma of ovary in childhood (disorder) en Attribution Inserm Orphanet
Cystic mesothelioma of peritoneum (disorder) en Attribution Inserm Orphanet
Cytokine release syndrome due to chimeric antigen receptor T-cell immunotherapy (disorder) en Attribution Inserm Orphanet
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder (disorder) en Attribution Inserm Orphanet
DDX41-related hematologic malignancy predisposition syndrome en Attribution Inserm Orphanet
DK phocomelia syndrome (disorder) en Attribution Inserm Orphanet
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) en Attribution Inserm Orphanet
De novo thrombotic microangiopathy following transplant of kidney (disorder) en Attribution Inserm Orphanet
Deafness and hypogonadism syndrome (disorder) en Attribution Inserm Orphanet
Deafness and oligodontia syndrome (disorder) en Attribution Inserm Orphanet
Deafness craniofacial syndrome (disorder) en Attribution Inserm Orphanet
Deafness with cataract and skeletal anomaly syndrome (disorder) en Attribution Inserm Orphanet
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) en Attribution Inserm Orphanet
Deafness with malformation of ear and facial palsy syndrome (disorder) en Attribution Inserm Orphanet
Dedicator of cytokinesis 2 deficiency (disorder) en Attribution Inserm Orphanet
Deficiency of dimethylglycine dehydrogenase (disorder) en Attribution Inserm Orphanet
Deficiency of galactose mutarotase en Attribution Inserm Orphanet
Deficiency of leukotriene C4 synthase (disorder) en Attribution Inserm Orphanet
Deficiency of monoamine oxidase A (disorder) en Attribution Inserm Orphanet
Deficiency of phosphoserine aminotransferase (disorder) en Attribution Inserm Orphanet
Dehydrated hereditary stomatocytosis (disorder) en Attribution Inserm Orphanet
Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) en Attribution Inserm Orphanet
Dendritic cell sarcoma en Attribution Inserm Orphanet
Dermatosparaxis Ehlers-Danlos syndrome (disorder) en Attribution Inserm Orphanet
Desmin related myopathy with Mallory body-like inclusions (disorder) en Attribution Inserm Orphanet
Intermediate DEND syndrome en Attribution Inserm Orphanet
Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) en Attribution Inserm Orphanet
Diabetic embryopathy (disorder) en Attribution Inserm Orphanet
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome en Attribution Inserm Orphanet
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) en Attribution Inserm Orphanet
Dicarboxylic aminoaciduria syndrome (disorder) en Attribution Inserm Orphanet
Diffuse alveolar hemorrhage en Attribution Inserm Orphanet
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (disorder) en Attribution Inserm Orphanet
Digenic haemochromatosis en Attribution Inserm Orphanet
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder) en Attribution Inserm Orphanet
Discrete papular lichen myxedematosus (disorder) en Attribution Inserm Orphanet
Disorder of fetus caused by propylthiouracil (disorder) en Attribution Inserm Orphanet
Radiation-induced plexopathy en Attribution Inserm Orphanet
Disorder of sex development with intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Distal arthrogryposis type 1 (disorder) en Attribution Inserm Orphanet
Distal arthrogryposis type 10 (disorder) en Attribution Inserm Orphanet
Distal arthrogryposis type 2B (disorder) en Attribution Inserm Orphanet
Distal arthrogryposis type 3 (disorder) en Attribution Inserm Orphanet
Distal arthrogryposis type 4 (disorder) en Attribution Inserm Orphanet
Distal arthrogryposis type 5 (disorder) en Attribution Inserm Orphanet

Start Previous Page 11 of 27 Next End

Reference Sets

Reference set descriptor

GB English

US English

Back to Start