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Person with cancer—personal genetic syndrome indicator, yes/no/unknown/not stated/inadequately described code N

Identifying and definitional attributes

Metadata item type:Help on this termData Element
Short name:Help on this termPersonal genetic syndrome indicator
METeOR identifier:Help on this term457065
Registration status:Help on this termHealth, Standard 04/02/2015
Definition:Help on this termAn 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 attributes

Representational attributes

Representation class:Help on this termCode
Data type:Help on this termNumber
Format:Help on this termN
Maximum character length:Help on this term1
Permissible values:Help on this term
ValueMeaning
1Yes
2No
Supplementary values:Help on this term
8Unknown
9Not stated/inadequately described

Source and reference attributes

Submitting organisation:Help on this termAustralian Institute of Health and Welfare

Data element attributes

Collection and usage attributes

Guide for use:Help on this term

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)].

Collection methods:Help on this termCollect from patient medical records.

Source and reference attributes

Submitting organisation:Help on this termCancer Australia

Relational attributes

Related metadata references:Help on this term

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:Help on this term

Adolescent and young adult cancer (clinical) DSS Health, Superseded 14/05/2015

Adolescent and young adult cancer (clinical) NBPDS Health, Standard 14/05/2015

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