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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
6q25 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
7p22.1 microduplication syndrome (disorder) en Attribution Inserm Orphanet
7q11.23 microduplication syndrome (disorder) en Attribution Inserm Orphanet
7q31 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
8p inverted duplication deletion syndrome (disorder) en Attribution Inserm Orphanet
8p11.2 deletion syndrome (disorder) en Attribution Inserm Orphanet
8p23.1 duplication syndrome (disorder) en Attribution Inserm Orphanet
8p23.1 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
8q12 microduplication syndrome (disorder) en Attribution Inserm Orphanet
8q13 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
8q21.11 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
8q22.1 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
8q24.3 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
9p13 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
9q21.13 microdeletion syndrome en Attribution Inserm Orphanet
9q31.1q31.3 microdeletion syndrome en Attribution Inserm Orphanet
9q33.3q34.11 microdeletion syndrome en Attribution Inserm Orphanet
AH amyloidosis (disorder) en Attribution Inserm Orphanet
AKT2-related familial partial lipodystrophy en Attribution Inserm Orphanet
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome en Attribution Inserm Orphanet
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis en Attribution Inserm Orphanet
Abdominal cutaneous nerve entrapment syndrome en Attribution Inserm Orphanet
Ablepharon macrostomia syndrome (disorder) en Attribution Inserm Orphanet
Absence deformity of leg and congenital cataract syndrome (disorder) en Attribution Inserm Orphanet
Absence of fingerprints with congenital milia syndrome (disorder) en Attribution Inserm Orphanet
Absent radius, anogenital anomalies syndrome (disorder) en Attribution Inserm Orphanet
Absent thumb with short stature and immunodeficiency syndrome (disorder) en Attribution Inserm Orphanet
Absent tibia, polydactyly, arachnoid cyst syndrome (disorder) en Attribution Inserm Orphanet
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) en Attribution Inserm Orphanet
Accessory anterior naris (disorder) en Attribution Inserm Orphanet
Acetazolamide responsive myotonia (disorder) en Attribution Inserm Orphanet
Achalasia microcephaly syndrome (disorder) en Attribution Inserm Orphanet
Ackerman syndrome (disorder) en Attribution Inserm Orphanet
Acquired C1 esterase inhibitor deficiency en Attribution Inserm Orphanet
Acquired cystic disease associated renal cell carcinoma (disorder) en Attribution Inserm Orphanet
Acquired hemophagocytic lymphohistiocytosis associated with malignant disease (disorder) en Attribution Inserm Orphanet
Acquired hypertrichosis lanuginosa en Attribution Inserm Orphanet
Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder) en Attribution Inserm Orphanet
Acquired purpura fulminans (disorder) en Attribution Inserm Orphanet
Acquired von Willebrand disease en Attribution Inserm Orphanet
Acral dystrophic epidermolysis bullosa (disorder) en Attribution Inserm Orphanet
Acral self-healing collodion baby (disorder) en Attribution Inserm Orphanet
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) en Attribution Inserm Orphanet
Acrocallosal syndrome (disorder) en Attribution Inserm Orphanet
Acrocapitofemoral dysplasia (disorder) en Attribution Inserm Orphanet
Acrocardiofacial syndrome (disorder) en Attribution Inserm Orphanet
Acrocephalopolydactyly (disorder) en Attribution Inserm Orphanet
Acrocephalopolysyndactyly type II (disorder) en Attribution Inserm Orphanet
Acrocraniofacial dysostosis (disorder) en Attribution Inserm Orphanet
Acrodysplasia scoliosis (disorder) en Attribution Inserm Orphanet
Acrofacial dysostosis Catania type (disorder) en Attribution Inserm Orphanet
Acrofacial dysostosis Kennedy Teebi type (disorder) en Attribution Inserm Orphanet
Acrofacial dysostosis Palagonia type (disorder) en Attribution Inserm Orphanet
Acrofacial dysostosis Rodriguez type (disorder) en Attribution Inserm Orphanet
Acrofrontofacionasal dysostosis (disorder) en Attribution Inserm Orphanet
Acrofrontofacionasal dysostosis type 2 en Attribution Inserm Orphanet
Acrokeratoelastoidosis of Costa (disorder) en Attribution Inserm Orphanet
Acromelic frontonasal dysplasia (disorder) en Attribution Inserm Orphanet
Acromesomelic dysplasia Maroteaux type (disorder) en Attribution Inserm Orphanet
Acroosteolysis, keloid-like lesions, premature ageing syndrome en Attribution Inserm Orphanet
Acrootoocular syndrome (disorder) en Attribution Inserm Orphanet
Acropectoral syndrome (disorder) en Attribution Inserm Orphanet
Acropectorovertebral dysplasia (disorder) en Attribution Inserm Orphanet
Acrorenal mandibular syndrome (disorder) en Attribution Inserm Orphanet
Acrorenal syndrome (disorder) en Attribution Inserm Orphanet
Acrorenoocular syndrome (disorder) en Attribution Inserm Orphanet
Action myoclonus renal failure syndrome en Attribution Inserm Orphanet
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder en Attribution Inserm Orphanet
Acute adrenal insufficiency en Attribution Inserm Orphanet
Acute annular outer retinopathy (disorder) en Attribution Inserm Orphanet
Acute bilateral depigmentation of iris (disorder) en Attribution Inserm Orphanet
Acute cerebellar ataxia following infectious disease (disorder) en Attribution Inserm Orphanet
Acute encephalopathy with biphasic seizures and late reduced diffusion en Attribution Inserm Orphanet
Acute fatty liver of pregnancy (disorder) en Attribution Inserm Orphanet
Acute generalized exanthematous pustulosis (disorder) en Attribution Inserm Orphanet
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder) en Attribution Inserm Orphanet
Acute infantile liver failure with multisystemic involvement syndrome en Attribution Inserm Orphanet
Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) en Attribution Inserm Orphanet
Post-transplant acute limbic encephalitis en Attribution Inserm Orphanet
Acute macular neuroretinopathy (disorder) en Attribution Inserm Orphanet
Acute motor axonal neuropathy (disorder) en Attribution Inserm Orphanet
Acute motor sensory axonal Guillain-Barré syndrome (disorder) en Attribution Inserm Orphanet
Acute myeloid leukemia and myelodysplastic syndrome related to alkylating agent en Attribution Inserm Orphanet
Acute myeloid leukaemia and myelodysplastic syndrome related to radiation en Attribution Inserm Orphanet
Acute myeloid leukemia and myelodysplastic syndrome related to topoisomerase type 2 inhibitor en Attribution Inserm Orphanet
Acute myeloid leukemia with 11q23 abnormality (disorder) en Attribution Inserm Orphanet
Acute myeloid leukemia with BCR-ABL1 en Attribution Inserm Orphanet
Acute myeloid leukaemia with CEBPA somatic mutations en Attribution Inserm Orphanet
Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1 en Attribution Inserm Orphanet
Acute myeloid leukemia with nucleophosmin 1 somatic mutation (disorder) en Attribution Inserm Orphanet
Acute myeloid leukemia with t(6;9)(p23;q34) translocation (disorder) en Attribution Inserm Orphanet
Acute myeloid leukemia with t(8;16)(p11;p13) translocation (disorder) en Attribution Inserm Orphanet
Acute necrotising encephalopathy of childhood en Attribution Inserm Orphanet
Acute neuronopathic Gaucher's disease en Attribution Inserm Orphanet
Acute occlusion of peripheral artery due to thrombosis (disorder) en Attribution Inserm Orphanet
Acute panmyelosis with myelofibrosis en Attribution Inserm Orphanet
Acute pure sensory neuropathy (disorder) en Attribution Inserm Orphanet
Acute radiation syndrome (disorder) en Attribution Inserm Orphanet
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (disorder) en Attribution Inserm Orphanet
Acute right ventricular failure following incision of heart (disorder) en Attribution Inserm Orphanet
Acute sensory ataxic neuropathy (disorder) en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

Description inactivation indicator reference set

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