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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
Hereditary butyrylcholinesterase deficiency (disorder) en Attribution Inserm Orphanet
Hereditary cavernous hemangioma of brain (disorder) en Attribution Inserm Orphanet
Hereditary cerebral hemorrhage with amyloidosis (disorder) en Attribution Inserm Orphanet
Hereditary combined deficiency of vitamin K-dependent clotting factors (disorder) en Attribution Inserm Orphanet
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome en Attribution Inserm Orphanet
Hereditary congenital prekallikrein deficiency (disorder) en Attribution Inserm Orphanet
Hereditary continuous muscle fiber activity en Attribution Inserm Orphanet
Hereditary cryohydrocytosis with normal stomatin (disorder) en Attribution Inserm Orphanet
Hereditary cryohydrocytosis with reduced stomatin en Attribution Inserm Orphanet
Hereditary diffuse carcinoma of stomach (disorder) en Attribution Inserm Orphanet
Hereditary dysautonomia with motor neuropathy en Attribution Inserm Orphanet
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) en Attribution Inserm Orphanet
AGel amyloidosis en Attribution Inserm Orphanet
Hereditary geniospasm (disorder) en Attribution Inserm Orphanet
Hereditary hollow viscus myopathy en Attribution Inserm Orphanet
Hereditary hypercarotenemia and vitamin A deficiency (disorder) en Attribution Inserm Orphanet
Hereditary hyperekplexia (disorder) en Attribution Inserm Orphanet
Hereditary hypophosphatemic rickets with hypercalciuria (disorder) en Attribution Inserm Orphanet
Hereditary hypotrichosis simplex (disorder) en Attribution Inserm Orphanet
Hereditary hypotrichosis simplex of scalp (disorder) en Attribution Inserm Orphanet
Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) en Attribution Inserm Orphanet
Hereditary inclusion body myopathy type 4 (disorder) en Attribution Inserm Orphanet
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) en Attribution Inserm Orphanet
Hereditary isolated aplastic anemia en Attribution Inserm Orphanet
Hereditary keratoacanthoma (disorder) en Attribution Inserm Orphanet
Hereditary leiomyomatosis and renal cell carcinoma (disorder) en Attribution Inserm Orphanet
Hereditary mixed polyposis syndrome en Attribution Inserm Orphanet
Hereditary motor and sensory neuropathy Okinawa type (disorder) en Attribution Inserm Orphanet
Hereditary motor and sensory neuropathy type 5 (disorder) en Attribution Inserm Orphanet
Hereditary motor and sensory neuropathy with acrodystrophy en Attribution Inserm Orphanet
Hereditary nonspherocytic hemolytic anemia due to increased adenosine deaminase activity (disorder) en Attribution Inserm Orphanet
Hereditary palmoplantar keratoderma Gamborg Nielsen type en Attribution Inserm Orphanet
Hereditary papillary renal cell carcinoma (disorder) en Attribution Inserm Orphanet
Hereditary persistence of alpha-fetoprotein (disorder) en Attribution Inserm Orphanet
Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome en Attribution Inserm Orphanet
Hereditary persistence of fetal hemoglobin, intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Hereditary primary clear cell renal cell carcinoma (disorder) en Attribution Inserm Orphanet
Hereditary progressive mucinous histiocytosis en Attribution Inserm Orphanet
Hereditary sensorimotor neuropathy with hyperelastic skin (disorder) en Attribution Inserm Orphanet
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation en Attribution Inserm Orphanet
Hereditary sensory and autonomic neuropathy type 1B (disorder) en Attribution Inserm Orphanet
Hereditary sensory and autonomic neuropathy type 6 (disorder) en Attribution Inserm Orphanet
Hereditary sensory and autonomic neuropathy type 7 (disorder) en Attribution Inserm Orphanet
Hereditary sensory and autonomic neuropathy type 8 (disorder) en Attribution Inserm Orphanet
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) en Attribution Inserm Orphanet
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) en Attribution Inserm Orphanet
Hereditary skin peeling syndrome (disorder) en Attribution Inserm Orphanet
Hereditary thrombocytopenia with early-onset myelofibrosis en Attribution Inserm Orphanet
Hereditary thrombocytopenia with normal platelets en Attribution Inserm Orphanet
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency en Attribution Inserm Orphanet
Hereditary transthyretin related amyloidosis (disorder) en Attribution Inserm Orphanet
Hereditary von Willebrand disease en Attribution Inserm Orphanet
Hereditary von Willebrand disease type 1 en Attribution Inserm Orphanet
Hereditary von Willebrand disease type 2 en Attribution Inserm Orphanet
Hereditary von Willebrand disease type 3 en Attribution Inserm Orphanet
Herpetiform pemphigus (disorder) en Attribution Inserm Orphanet
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) en Attribution Inserm Orphanet
Hidrotic ectodermal dysplasia Halal type (disorder) en Attribution Inserm Orphanet
High bone mass osteogenesis imperfecta en Attribution Inserm Orphanet
High grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements en Attribution Inserm Orphanet
High-grade neuroendocrine carcinoma of cervix uteri (disorder) en Attribution Inserm Orphanet
High-grade neuroendocrine carcinoma of corpus uteri (disorder) en Attribution Inserm Orphanet
Hip dysplasia Beukes type (disorder) en Attribution Inserm Orphanet
Upington disease en Attribution Inserm Orphanet
Hirschsprung disease with deafness and polydactyly syndrome (disorder) en Attribution Inserm Orphanet
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) en Attribution Inserm Orphanet
Hirschsprung disease with type D brachydactyly syndrome (disorder) en Attribution Inserm Orphanet
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) en Attribution Inserm Orphanet
Histiocytosis-lymphadenopathy plus syndrome (disorder) en Attribution Inserm Orphanet
Holmes Adie syndrome (disorder) en Attribution Inserm Orphanet
Holoprosencephaly and postaxial polydactyly syndrome (disorder) en Attribution Inserm Orphanet
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) en Attribution Inserm Orphanet
Holoprosencephaly with caudal dysgenesis syndrome (disorder) en Attribution Inserm Orphanet
Hartsfield syndrome en Attribution Inserm Orphanet
Holt-Oram syndrome en Attribution Inserm Orphanet
Holzgreve syndrome (disorder) en Attribution Inserm Orphanet
Homocystinuria without methylmalonic aciduria (disorder) en Attribution Inserm Orphanet
Hot water reflex epilepsy en Attribution Inserm Orphanet
House allergic alveolitis en Attribution Inserm Orphanet
Hoyeraal-Hreidarsson syndrome (disorder) en Attribution Inserm Orphanet
HtrA serine peptidase 1-related autosomal dominant cerebral small vessel disease (disorder) en Attribution Inserm Orphanet
Hughes Stovin syndrome (disorder) en Attribution Inserm Orphanet
Humeroradioulnar synostosis en Attribution Inserm Orphanet
Hunter McAlpine craniosynostosis syndrome (disorder) en Attribution Inserm Orphanet
Huntington disease-like 1 (disorder) en Attribution Inserm Orphanet
Huntington disease-like 2 (disorder) en Attribution Inserm Orphanet
Huntington disease-like 3 en Attribution Inserm Orphanet
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder) en Attribution Inserm Orphanet
Hyaline fibromatosis syndrome en Attribution Inserm Orphanet
Hydroa vacciniforme-like lymphoma (disorder) en Attribution Inserm Orphanet
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) en Attribution Inserm Orphanet
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) en Attribution Inserm Orphanet
Hydrocephalus with obesity and hypogonadism syndrome (disorder) en Attribution Inserm Orphanet
Hydrocephalus, blue sclera, nephropathy syndrome en Attribution Inserm Orphanet
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) en Attribution Inserm Orphanet
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) en Attribution Inserm Orphanet
Hydrocephalus, tall stature, joint laxity syndrome (disorder) en Attribution Inserm Orphanet
Hydrolethalus syndrome (disorder) en Attribution Inserm Orphanet
Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder) en Attribution Inserm Orphanet
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) en Attribution Inserm Orphanet
Hyperandrogenism due to cortisone reductase deficiency en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

Description inactivation indicator reference set

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