Genetic Function Concepts and Types

$395 / year

This dataset contains the entire concept structure of UMLS Metathesaurus for the semantic type “Genetic Function”. One of the primary purposes of this dataset is to connect different names for the all concepts for a specific Semantic Type. There are 125 semantic types in the Semantic Network. Every Metathesaurus concept is assigned at least one semantic type; very few terms are assigned as many as five semantic types. This dataset contains the concepts structure for “English” language entries in the UMLS Metathesaurus.

Categories: ,
Complexity

The UMLS, or Unified Medical Language System, is a set of files and software that brings together many health and biomedical vocabularies and standards to enable interoperability between computer systems. One powerful use of the UMLS is linking health information, medical terms, drug names, and billing codes across different computer systems. Some examples of this are:
– Linking terms and codes between your doctor, your pharmacy, and your insurance company
– Patient care coordination among several departments within a hospital
The UMLS has many other uses, including search engine retrieval, data mining, public health statistics reporting, and terminology research.
The UMLS has three tools (Knowledge Sources):
– Metathesaurus: Terms and codes from many vocabularies, including CPT, ICD-10-CM, LOINC, MeSH, RxNorm, and SNOMED CT
– Semantic Network: Broad categories (semantic types) and their relationships (semantic relations)
– SPECIALIST Lexicon and Lexical Tools: Natural language processing tools

The 2017AA Metathesaurus contains approximately 3.44 million concepts and 13.7 million unique concept names from 199 source vocabularies. The Metathesaurus is a very large, multi-purpose, and multi-lingual vocabulary database that contains information about biomedical and health related concepts, their various names, and the relationships among them. It is built from the electronic versions of many different thesauri, classifications, code sets, and lists of controlled terms used in patient care, health services billing, public health statistics, indexing and cataloging biomedical literature, and /or basic, clinical, and health services research. In this documentation, these are referred to as the “source vocabularies” of the Metathesaurus. In the Metathesaurus, all the source vocabularies are available in a single, fully-specified database format.

The Metathesaurus is organized by concept or meaning. In essence, its purpose is to link alternative names and views of the same concept together and to identify useful relationships between different concepts. All concepts in the Metathesaurus are assigned to at least one semantic type from the Semantic Network. This provides consistent categorization of all concepts in the Metathesaurus at the relatively general level represented in the Semantic Network.
The purpose of the Semantic Network is to provide a consistent categorization of all concepts represented in the UMLS Metathesaurus and to provide a set of useful relationships between these concepts. All information about specific concepts is found in the Metathesaurus; the Network provides information about the set of basic semantic types, or categories, which may be assigned to these concepts, and it defines the set of relationships that may hold between the semantic types. The current release of the Semantic Network contains 125 semantic types and 54 relationships. The Semantic Network serves as an authority for the semantic types that are assigned to concepts in the Metathesaurus. The Network defines these types, both with textual descriptions and by means of the information inherent in its hierarchies.

Date Created

2009-07-29

Last Modified

2017-05-08

Version

2017AA

Update Frequency

Semiannual

Temporal Coverage

N/A

Spatial Coverage

N/A

Source

John Snow Labs => U.S. National Library of Medicine (NLM)

Source License URL

John Snow Labs Standard License

Source License Requirements

Reporting Requirements

Source Citation

N/A

Keywords

UMLS, Metathesaurus, UMLS concepts, Semantic Type, RRF, NLM

Other Titles

Metathesaurus Concepts and Their Semantic Types, Processes Genetic Function Concepts and Types, MRCONSO & MRSTY

Name Description Type Constraints
Concept_Unique_IdentifierConcept Unique Identifier (CUI) is the unique identifier for a Metathesaurus concept to which strings with the same meaning are linked. CUI starts with C followed by 7 digits.stringrequired : 1
Language_of_TermsLanguage of terms in the source vocabularystringrequired : 1
Term_StatusStatus of the term. P= Preferred LUI of the CUI, S= Non-Preferred LUI of the CUIstringrequired : 1
Lexical_Unique_IdentifierLexical Unique Identifier (LUI) is the unique identifier of a term in the Metathesaurus. Terms are different from strings in that they group together strings that are lexical variants of one another. LUI starts with L followed by 7 digits.stringrequired : 1
String_TypeType of string. PF= Preferred form of term, VCW=Case and word-order variant of the preferred form, VC=Case variant of the preferred form, VO=Variant of the preferred form, VW=Word-order variant of the preferred form.stringrequired : 1
String_Unique_IdentifierString Unique Identifier (SUI) is a unique identifier for each unique string in the Metathesaurus. Strings that differ in any way, e.g., by upper or lower case, will have different SUIs. SUI starts with S followed by 7 digits.stringrequired : 1
Is_PreferredIndicates if the atom status is preferred (true) or not (false) for this string within this concept.booleanrequired : 1
Atom_Unique_IdentifierAtom Unique Identifier (AUI) is an identifier for the atom in the UMLS. It is the primary key to the concepts table. AUI starts with A followed by 7 digits. They are the concept names or strings from each of the source vocabulariesstringrequired : 1
Source_Asserted_Atom_IdentifierSource asserted identifier for an atomstring-
Source_Asserted_Concept_IdentifierSource asserted identifier for a conceptstring-
Source_Asserted_Descriptor_IdentifierSource asserted identifier for descriptor in the metathesaurusstring-
Source_AbbreviationAbbreviation of the source vocabularystringrequired : 1
Term_TypeType of term within the source vocabulary. A value indicating the kind of role an atom plays in its source. Examples include PT for "preferred term," SY for "synonym," and MH for "main heading."string-
Source_String_CodeSource string code (CODE) is the Unique Identifier or code for string in sourcestring-
String_NameName of string in the Metathesaurusstring-
Source_Restriction_Levelintegerrequired : 1 level : Nominal
Suppressible_FlagIn the UMLS Metathesaurus terms can be marked as "suppressible", these terms can then be removed from the subset. These terms are most often identified as suppressible because of ambiguity in meaning or lack of face validity. Suppressible flag. Values = E: Suppressible due to editor decision, N: Not suppressible, O: Obsolete, Y: Suppressible due to SABstringrequired : 1
Content_View_Flag_1Content View Flag. Bit field used to flag rows included in Content View. This field is a varchar field to maximize the number of bits available for use.integerlevel : Nominal
Semantic_Type_Unique_IdentifierUnique id assigned to semantic type e.g., T004=Fungus, T005=Virusstringrequired : 1
Semantic_Type_Tree_IdentifierSemantic type tree numberstringrequired : 1
Semantic_Type_NameName of semantic typestringrequired : 1
Attribute_Type_IdentifierEach concept has specific attributes defining its meaning and is linked to the corresponding concept names in the various source vocabulariesstringrequired : 1
Content_View_Flag_2A bit field used to flag rows included in Content View. This field is a varchar field to maximize the number of bits available for use.integerlevel : Nominal
Concept_Unique_IdentifierLanguage_of_TermsTerm_StatusLexical_Unique_IdentifierString_TypeString_Unique_IdentifierIs_PreferredAtom_Unique_IdentifierSource_Asserted_Atom_IdentifierSource_Asserted_Concept_IdentifierSource_Asserted_Descriptor_IdentifierSource_AbbreviationTerm_TypeSource_String_CodeString_NameSource_Restriction_LevelSuppressible_FlagContent_View_Flag_1Semantic_Type_Unique_IdentifierSemantic_Type_Tree_IdentifierSemantic_Type_NameAttribute_Type_IdentifierContent_View_Flag_2
C1155661ENGSL1218041PFS1459573trueA7584984C20639NCIABC20639MMR0NT045B2.2.1.1.4.1Genetic FunctionAT08498831256
C0026882ENGPL0026882PFS0064369trueA10835134MTHPNNOCODEMutation0N256T045B2.2.1.1.4.1Genetic FunctionAT17679184256
C0241764ENGSL0310461VOS0413700trueA0471981DXPFIU004500X-LINKED0N256T045B2.2.1.1.4.1Genetic FunctionAT08498407256
C0524550ENGSL5372670PFS6135012trueA7655572C20213NCIABC20213NER0N256T045B2.2.1.1.4.1Genetic FunctionAT17679214256
C0524869ENGSL0867260PFS0925416falseA7582863C18016NCIABC18016LOH0N256T045B2.2.1.1.4.1Genetic FunctionAT17679176256
C1158530ENGSL1956185PFS6662160trueA20253429C20212NCIABC20212BER0N256T045B2.2.1.1.4.1Genetic FunctionAT17679229256
C1518406ENGSL5372751PFS6135081trueA7655654C20207NCIABC20207NHEJ0N256T045B2.2.1.1.4.1Genetic FunctionAT46177906256
C0015219ENGSL0015219VOS0039564falseA0056964LCHPTU001698Evolution0N256T045B2.2.1.1.4.1Genetic FunctionAT17679183256
C0683220ENGPL1193656PFS1428892trueA1388497AODNP0000022114nu body0N256T045B2.2.1.1.4.1Genetic FunctionAT08498353256
C1136031ENGSL2327267PFS2742886falseA7589308C20153NCIABC20153RNAi0N256T045B2.2.1.1.4.1Genetic FunctionAT17679221256
Related Data Packages