Person with cancer—personal genetic syndrome indicator, yes/no/unknown/not stated/inadequately described code N
Data Element Attributes
Identifying and definitional attributes | |
Metadata item type: | Data Element |
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Short name: | Personal genetic syndrome indicator |
METEOR identifier: | 457065 |
Registration status: | Health, Standard 04/02/2015 |
Definition: | An indicator of whether the person with cancer has been diagnosed with a genetic syndrome, as represented by a code. |
Data Element Concept: | Person with cancer—personal genetic syndrome indicator |
Value Domain: | Yes/no/unknown/not stated/inadequately described code N |
Source and reference attributes | |
Submitting organisation: | Australian Institute of Health and Welfare |
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Data element attributes | |
Collection and usage attributes | |
Guide for use: | Record yes when a person has been diagnosed with any genetic syndrome. This includes, but is not exclusive to: • Peutz-Jehgers syndrome • B-Raf mutation • Undescended testes • Von Recklinghausen syndrome • Xeroderma pigmentosa • Bloom syndrome • Ataxia telangiectasia • Beckwith-Wiedemann syndrome • Down syndrome • Klinefelter syndrome • Neurofibromatosis type I (NF-1) • Von Hippel–Lindau disease (VHL) • RET proto-oncogene • Adenomatous polyposis coli (APC) • Hereditary nonpolyposis colorectal cancer (HNPCC or Lynch syndrome) • Breast cancer gene 1 (BRCA1) • Breast cancer gene 2 (BRCA2) • Neurofibromatosis • Li-Fraumeni syndrome • Fanconi anaemia If Yes is selected for personal genetic syndrome indicator, record the type of specific syndrome/s at Person with cancer—hereditary genetic events type, code N[N] or Person with cancer—hereditary genetic events type, text X[X(39)]. |
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Collection methods: | Collect from patient medical records. |
Source and reference attributes | |
Submitting organisation: | Cancer Australia |
Relational attributes | |
Related metadata references: | See also Person with cancer—personal genetic syndrome type, genetic event type code N[N] Health, Standard 04/02/2015 See also Person with cancer—personal genetic syndrome type, text X[X(39)] Health, Standard 04/02/2015 |
Implementation in Data Set Specifications: | Adolescent and young adult cancer (clinical) DSS Health, Superseded 14/05/2015 Adolescent and young adult cancer (clinical) NBPDS Health, Standard 14/05/2015 |