Link to this page
Logical Observation Identifier Names and Codes
Last uploaded:
January 16, 2025
Jump to:
| Id | http://purl.bioontology.org/ontology/LNC/73750-2
http://purl.bioontology.org/ontology/LNC/73750-2
|
|---|---|
| Preferred Name | RAI1 gene 17p11.2 deletion+duplication:Prid:Pt:Bld/Tiss:Nom:FISH |
| Synonyms |
RAI1 17p11.2 Del+Dup Bld/T FISH
RAI1 gene 17p11.2 del and dup mutation analysis FISH Nom (Bld/Tiss)
RAI1 gene 17p11.2 deletion and duplication mutation analysis [Identifier] in Blood or Tissue by FISH Nominal
RAI1 gene 17p11.2 deletion+duplication:Presence or Identity:To identify measures at a point in time:Whole blood/Tissue, unspecified:Nominal:FISH
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | RAI1 17p11.2 Del+Dup Bld/T FISH
RAI1 gene 17p11.2 del and dup mutation analysis FISH Nom (Bld/Tiss)
RAI1 gene 17p11.2 deletion and duplication mutation analysis [Identifier] in Blood or Tissue by FISH Nominal
RAI1 gene 17p11.2 deletion+duplication:Presence or Identity:To identify measures at a point in time:Whole blood/Tissue, unspecified:Nominal:FISH
|
|---|---|
| prefLabel | RAI1 gene 17p11.2 deletion+duplication:Prid:Pt:Bld/Tiss:Nom:FISH
|
| LOINC time aspect | Pt
|
| VERSION LAST CHANGED | 2.61
|
| notation | 73750-2
|
| Answer list OID | 1.3.6.1.4.1.12009.10.1.1646
|
| Has class | |
| Has property | |
| Answer list ID | LL2484-5
|
| Scope Statement | FISH studies are performed using an SMS probe to detect a deletion or duplication within the critical region of the retinoic acid induced 1 (RAI1) gene on chromosome 17p11.2. FISH signal pattern indicating a loss of the RAI1 critical region is consistent with a diagnosis of 17p11.2 deletion (Smith-Magenis) syndrome. Additional signals are consistent with a diagnosis of 17p11.2 duplication (Potocki-Lupski) syndrome. The answer list provided with this code is an example and not meant to include all possible results.
|
| LOR | Both
|
| COMMON ORDER RANK | 0
|
| LOINC property | Prid
|
| LOINC system | Bld/Tiss
|
| LCL | MOLPATH.DEL
|
| VERSION FIRST RELEASED | 2.44
|
| CONSUMER NAME | RAI1 gene 17p11.2 deletion/duplication analysis, Blood or tissue specimen
|
| Has scale | |
| Has component | |
| Has method | |
| Has system | |
| LCS | ACTIVE
|
| Related names 2 | unspecified; WB; Whole blood; Whole blood or Tissue
Amplification; Blood; Del; Del+Dup; Deletions; Dp; Fluorescent in situ hybridization; Genetics; Heredity; Heritable; Identity or presence; Inherited; Molecular pathology; MOLPATH; MOLPATH.DELETIONS; Nominal; Point in time; Random; Retinoic acid induced 1; SMCR; SMS; Tissue; Tissue
|
| LCT | MIN
|
| Has answer | |
| LOINC scale type | Nom
|
| subClassOf | |
| Semantic type UMLS property | |
| measures | |
| LOINC component | RAI1 gene 17p11.2 deletion+duplication
|
| Has suffix | |
| LOINC method type | FISH
|
| type | |
| COMMON TEST RANK | 0
|
| LCN | 1
|
| Has time aspect | |
| tui | T201
|
| cui | C3654246
|
| Answer list name | 17p11.2 FISH
|
| analyzes |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
- Problem retrieving properties: