Genetic event type code N[N]

Identifying and definitional attributes

Metadata item type:Value Domain
METeOR identifier:467911
Registration status:Health, Standard 04/02/2015
Definition:A code set representing types of genetic events and syndromes.

Representational attributes

Representation class:Code
Data type:Number
Format:N[N]
Maximum character length:2
Permissible values:
ValueMeaning
1Peutz-Jehgers syndrome
2B-Raf mutation
3Undescended testes
4Von Recklinghausen syndrome
5Xeroderma pigmentosa
6Bloom syndrome
7Ataxia telangiectasia
8Beckwith-Wiedemann syndrome
9Down syndrome
10Klinefelter syndrome
11Neurofibromatosis type I (NF-1)
12Von Hippel–Lindau disease (VHL)
13RET proto-oncogene
14Adenomatous polyposis coli (APC)
15Hereditary nonpolyposis colorectal cancer (HNPCC or Lynch syndrome)
16Breast cancer gene 1 (BRCA1)
17Breast cancer gene 2 (BRCA2)
18Neurofibromatosis
19Li-Fraumeni syndrome
20Fanconi anaemia
88Other genetic events or syndromes
Supplementary values:
97No genetic events or syndromes
98Unknown
99Genetic event or syndrome recorded but type inadequately described

Source and reference attributes

Submitting organisation:Cancer Australia

Relational attributes

Data elements implementing this value domain:

Person with cancer—hereditary genetic events type, code N[N] Health, Standard 04/02/2015

Person with cancer—personal genetic syndrome type, genetic event type code N[N] Health, Standard 04/02/2015