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765057007: 'BRCA1 associated protein 1 tumor predisposition'-syndroom (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: module van internationale editie (metadata)

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3656218011 BAP1-related tumor predisposition syndrome en synoniem (metadata) Active gehele beschrijving hoofdlettergevoelig module van internationale editie (metadata) Amerikaans-Engelse taalreferentieset (metadata): acceptabel
3656220014 Tumour susceptibility associated with germline BAP1 mutation en synoniem (metadata) Active alleen eerste karakter niet-hoofdlettergevoelig module van internationale editie (metadata) Brits-Engelse taalreferentieset: acceptabel
3656221013 Tumor susceptibility associated with germline BAP1 mutation en synoniem (metadata) Active alleen eerste karakter niet-hoofdlettergevoelig module van internationale editie (metadata) Amerikaans-Engelse taalreferentieset (metadata): acceptabel
3656222018 BAP1 tumor predisposition syndrome en synoniem (metadata) Active gehele beschrijving hoofdlettergevoelig module van internationale editie (metadata) Netherlands Dutch language reference set: acceptabel
3656223011 BRCA1 associated protein 1 tumor predisposition syndrome en synoniem (metadata) Active gehele beschrijving hoofdlettergevoelig module van internationale editie (metadata) Amerikaans-Engelse taalreferentieset (metadata): acceptabel
3656224017 BRCA1 associated protein 1 tumour predisposition syndrome en synoniem (metadata) Active gehele beschrijving hoofdlettergevoelig module van internationale editie (metadata) Brits-Engelse taalreferentieset: acceptabel
3656225016 BAP1 tumour predisposition syndrome en synoniem (metadata) Active gehele beschrijving hoofdlettergevoelig module van internationale editie (metadata) Brits-Engelse taalreferentieset: voorkeursterm
3656226015 BRCA1 associated protein 1 tumor predisposition syndrome (disorder) en volledig gespecificeerde naam (metadata) Active gehele beschrijving hoofdlettergevoelig module van internationale editie (metadata) Brits-Engelse taalreferentieset: voorkeursterm
3780478016 BAP1-related tumour predisposition syndrome en synoniem (metadata) Active gehele beschrijving hoofdlettergevoelig module van internationale editie (metadata) Brits-Engelse taalreferentieset: acceptabel
6355281000146115 BAP1-tumorpredispositiesyndroom nl synoniem (metadata) Active gehele beschrijving hoofdlettergevoelig SNOMED CT Netherlands NRC maintained module (core metadata concept) Netherlands Dutch language reference set: acceptabel
6596151000146119 'BRCA1 associated protein 1 tumor predisposition'-syndroom nl synoniem (metadata) Active gehele beschrijving hoofdlettergevoelig SNOMED CT Netherlands NRC maintained module (core metadata concept) Netherlands Dutch language reference set: voorkeursterm
6596161000146116 syndroom van BRCA1-geassocieerde-proteïne-1 tumorpredispositie nl synoniem (metadata) Active gehele beschrijving niet-hoofdlettergevoelig SNOMED CT Netherlands NRC maintained module (core metadata concept) Netherlands Dutch language reference set: acceptabel
6596171000146110 'BRCA1 associated protein 1 tumor predisposition'-syndroom (aandoening) nl volledig gespecificeerde naam (metadata) Active gehele beschrijving hoofdlettergevoelig SNOMED CT Netherlands NRC maintained module (core metadata concept) Netherlands Dutch language reference set: voorkeursterm
3656229010 An inherited disorder that increases the risk of a variety of malignant and benign tumors most commonly occurring in the skin, eyes, kidneys, chest, abdomen and mesothelium. Affected individuals can develop one or more types of neoplasm and affected members of the same family can have different types. Malignancies arise at a younger age, are often more aggressive and tend metastasize. The disease is caused by mutations in the BAP1 gene. In addition to a germline mutation in one copy of the gene, a second somatic mutation usually occurs in the normal copy of the gene in cells that give rise to neoplasms. Together, the germline and somatic mutations result in a complete loss of BAP1 protein function in tumor cells. Inherited in an autosomal dominant pattern, in most cases, an affected person has one parent with the condition. People with a mutation in the BAP1 gene inherit an increased risk of tumor formation however not all will develop a tumor. en tekstdefinitie (metadata) Active gehele beschrijving hoofdlettergevoelig module van internationale editie (metadata) Amerikaans-Engelse taalreferentieset (metadata): voorkeursterm
3656230017 An inherited disorder that increases the risk of a variety of malignant and benign tumours most commonly occurring in the skin, eyes, kidneys, chest, abdomen and mesothelium. Affected individuals can develop one or more types of neoplasm and affected members of the same family can have different types. Malignancies arise at a younger age, are often more aggressive and tend metastasise. The disease is caused by mutations in the BAP1 gene. In addition to a germline mutation in one copy of the gene, a second somatic mutation usually occurs in the normal copy of the gene in cells that give rise to neoplasms. Together, the germline and somatic mutations result in a complete loss of BAP1 protein function in tumour cells. Inherited in an autosomal dominant pattern, in most cases, an affected person has one parent with the condition. People with a mutation in the BAP1 gene inherit an increased risk of tumour formation however not all will develop a tumour. en tekstdefinitie (metadata) Active gehele beschrijving hoofdlettergevoelig module van internationale editie (metadata) Brits-Engelse taalreferentieset: voorkeursterm

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
BAP1 tumour predisposition syndrome Is a Autosomal dominant hereditary disorder true geïnfereerde relatie existentiële restrictie (metadata)
BAP1 tumour predisposition syndrome Is a Hereditary cancer-predisposing syndrome true geïnfereerde relatie existentiële restrictie (metadata)

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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