FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.7  |  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)


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
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder) en Attribution Inserm Orphanet
Verloove Vanhorick Brubakk syndrome en Attribution Inserm Orphanet
Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus (disorder) en Attribution Inserm Orphanet
Vici syndrome (disorder) en Attribution Inserm Orphanet
Visceral calciphylaxis en Attribution Inserm Orphanet
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) en Attribution Inserm Orphanet
Visual snow syndrome en Attribution Inserm Orphanet
WT limb blood syndrome (disorder) en Attribution Inserm Orphanet
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) en Attribution Inserm Orphanet
Waardenburg Shah syndrome en Attribution Inserm Orphanet
Waardenburg syndrome en Attribution Inserm Orphanet
Warburg micro syndrome en Attribution Inserm Orphanet
Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Wasting syndrome due to acquired immunodeficiency syndrome (disorder) en Attribution Inserm Orphanet
Weaver Williams syndrome (disorder) en Attribution Inserm Orphanet
Weismann Netter syndrome (disorder) en Attribution Inserm Orphanet
White Sutton syndrome (disorder) en Attribution Inserm Orphanet
White fibrous papulosis of neck en Attribution Inserm Orphanet
White forelock with malformations syndrome en Attribution Inserm Orphanet
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome en Attribution Inserm Orphanet
White platelet syndrome (disorder) en Attribution Inserm Orphanet
Wiedemann Steiner syndrome en Attribution Inserm Orphanet
Wilson Turner syndrome (disorder) en Attribution Inserm Orphanet
Witteveen Kolk syndrome en Attribution Inserm Orphanet
Wolf Hirschhorn syndrome (disorder) en Attribution Inserm Orphanet
Wolfram syndrome en Attribution Inserm Orphanet
Wolfram-like syndrome (disorder) en Attribution Inserm Orphanet
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome en Attribution Inserm Orphanet
Wooly hair with palmoplantar keratoderma syndrome en Attribution Inserm Orphanet
WSACS consensus guidelines intra-abdominal hypertension grade I en Attribution WSACS - World Society of the Abdominal Compartment Syndrome
WSACS consensus guidelines intra-abdominal hypertension grade II en Attribution WSACS - World Society of the Abdominal Compartment Syndrome
World Society of the Abdominal Compartment Syndrome consensus guidelines intra-abdominal hypertension grade III (disorder) en Attribution WSACS - World Society of the Abdominal Compartment Syndrome
WSACS consensus guidelines intra-abdominal hypertension grade IV en Attribution WSACS - World Society of the Abdominal Compartment Syndrome
X chromosome-linked sideroblastic anemia en Attribution Inserm Orphanet
X-linked Charcot-Marie-Tooth disease type 1 en Attribution Inserm Orphanet
X-linked Charcot-Marie-Tooth disease type 2 (disorder) en Attribution Inserm Orphanet
X-linked Charcot-Marie-Tooth disease type 3 en Attribution Inserm Orphanet
X-linked Charcot-Marie-Tooth disease type 4 en Attribution Inserm Orphanet
X-linked Charcot-Marie-Tooth disease type 5 (disorder) en Attribution Inserm Orphanet
X-linked Charcot-Marie-Tooth disease type 6 (disorder) en Attribution Inserm Orphanet
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) en Attribution Inserm Orphanet
X-linked calvarial hyperostosis en Attribution Inserm Orphanet
X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) en Attribution Inserm Orphanet
X-linked cerebral, cerebellar, coloboma syndrome (disorder) en Attribution Inserm Orphanet
X-linked cleft palate and ankyloglossia en Attribution Inserm Orphanet
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder) en Attribution Inserm Orphanet
X-linked cone dysfunction syndrome with myopia (disorder) en Attribution Inserm Orphanet
X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) en Attribution Inserm Orphanet
X-linked corneal dermoid (disorder) en Attribution Inserm Orphanet
X-linked diffuse leiomyomatosis with Alport syndrome (disorder) en Attribution Inserm Orphanet
X-linked distal arthrogryposis multiplex congenita (disorder) en Attribution Inserm Orphanet
X-linked distal spinal muscular atrophy type 3 (disorder) en Attribution Inserm Orphanet
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) en Attribution Inserm Orphanet
X-linked dominant erythropoietic protoporphyria en Attribution Inserm Orphanet
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) en Attribution Inserm Orphanet
X-linked endothelial dystrophy of cornea (disorder) en Attribution Inserm Orphanet
X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) en Attribution Inserm Orphanet
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability en Attribution Inserm Orphanet
X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) en Attribution Inserm Orphanet
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) en Attribution Inserm Orphanet
X-linked immunoneurologic disorder (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability Abidi type (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability Armfield type (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability Atkin type (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability Cabezas type (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability Cantagrel type (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability Cilliers type (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability Hedera type (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability Miles Carpenter type (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability Nascimento type (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability Pai type (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability Schimke type (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability Seemanova type (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability Shrimpton type en Attribution Inserm Orphanet
X-linked intellectual disability Siderius type (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability Stevenson type (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability Stocco Dos Santos type (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability Stoll type (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability Van Esch type (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability Wilson type (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability due to GRIA3 mutations en Attribution Inserm Orphanet
X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability with ataxia and apraxia syndrome (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability with plagiocephaly syndrome (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability with seizure and psoriasis syndrome (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome en Attribution Inserm Orphanet
X-linked intellectual disability, craniofacioskeletal syndrome en Attribution Inserm Orphanet
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome en Attribution Inserm Orphanet
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome en Attribution Inserm Orphanet
X-linked intellectual disability, hypotonia, movement disorder syndrome en Attribution Inserm Orphanet
X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) en Attribution Inserm Orphanet
X-linked intellectual disability, short stature, overweight syndrome en Attribution Inserm Orphanet

Start Previous Page 52 of 53 End


Reference Sets

Reference set descriptor

Description inactivation indicator reference set

Back to Start