428850001: Li-Fraumeni-syndroom (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary cancer-predisposing syndrome\Li-Fraumeni syndrome (disorder)

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Li-Fraumeni syndrome (disorder)

\Neoplasm and/or hamartoma (disorder)\Neoplastic disease (disorder)\Familial neoplastic disease\Li-Fraumeni syndrome (disorder)

\Familial disease\Familial neoplastic disease\Li-Fraumeni syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2008. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2690316013 Li-Fraumeni syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

2694548016 Li-Fraumeni syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

696551000146118 syndroom van Li-Fraumeni nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10669651000146115 Li-Fraumeni-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10669661000146117 Li-Fraumeni-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12717821000146116 li-fraumenisyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12717841000146110 LFS nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12717831000146119 LFS; zeer zeldzame, erfelijke aandoening waarbij op verschillende plaatsen in het lichaam kwaadaardige tumoren ontstaan, zoals wekedelentumoren, osteosarcoom, leukemie, borstkanker, dikkedarmkanker en hersenkanker. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Li-Fraumeni syndrome (disorder)	Is a	Familial neoplastic disease	true	Inferred relationship	Some
Li-Fraumeni syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Li-Fraumeni syndrome (disorder)	Associated morphology	Neoplasm	true	Inferred relationship	Some	1
Li-Fraumeni syndrome (disorder)	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Adrenal Cushing's syndrome associated with Li-Fraumeni syndrome (disorder)	Associated with	True	Li-Fraumeni syndrome (disorder)	Inferred relationship	Some	1

This concept is not in any reference sets