699346009: hereditair tumorpredispositiesyndroom (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary cancer-predisposing syndrome	Is a	Hereditary disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Costello syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Dyskeratosis congenita	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Beckwith-Wiedemann syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Familial multiple tumor syndrome	Is a	False	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Von Hippel-Lindau syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Multiple endocrine neoplasia, type 2	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Familial cancer of breast	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Xeroderma pigmentosum	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Nephroblastoma	Is a	False	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Sotos' syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Fanconi's anemia	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Microcephaly, normal intelligence and immunodeficiency	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Familial multiple polyposis syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Simpson-Golabi-Behmel syndrome (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Drash syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Li-Fraumeni syndrome (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Bannayan syndrome	Is a	False	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Cockayne syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Noonan's syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
HNPCC - hereditary nonpolyposis colon cancer	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Multiple endocrine neoplasia, type 1	Is a	False	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Arteriohepatic dysplasia	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Ataxia-telangiectasia syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Aase syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Rubinstein-Taybi syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Polyostotic fibrous dysplasia of bone	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Schinzel-Giedion syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Werner syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Tuberous sclerosis syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Congenital neutropenia	Is a	False	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Mosaic variegated aneuploidy syndrome (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Emberger syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Ataxia-telangiectasia-like disorder (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Neurofibramatosis 3	Is a	False	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Neurofibromatosis 2	Is a	False	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Neurofibromatosis 1	Is a	False	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Schöpf-Schulz-Passarge syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Megalencephaly capillary malformation	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Familial nonpolyposis colorectal cancer	Is a	False	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Aicardi's syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Common variable agammaglobulinemia	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Langerhans cell histiocytosis - Hashimoto-Pritzker type (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Rothmund-Thomson syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Wiskott-Aldrich syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Tyrosinemia type I (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Hereditary keratoacanthoma (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Hereditary diffuse carcinoma of stomach (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Melanoma and neural system tumour syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Lynch syndrome (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Rombo syndrome (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Autoimmune lymphoproliferative syndrome with recurrent viral infection (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Perlman syndrome (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Paraganglioma and gastric stromal sarcoma syndrome (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
N syndrome (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Dianzani autoimmune lymphoproliferative disease (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
RAS-associated autoimmune leukoproliferative disease (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Ligase 4 syndrome (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Hereditary papillary renal cell carcinoma (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
PTEN hamartoma tumor syndrome (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Constitutional mismatch repair deficiency syndrome (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Familial renal cell carcinoma (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Hereditary primary clear cell renal cell carcinoma (disorder)	Is a	False	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
BAP1 tumor predisposition syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutation (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Combined immunodeficiency due to OX40 deficiency	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Melanogenesis associated transcription factor related melanoma and renal cell carcinoma predisposition syndrome (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Autosomal recessive lymphoproliferative disease (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Gastric adenocarcinoma and proximal polyposis of stomach (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
LMNA-related cardiocutaneous progeria syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Oligodontia and cancer predisposition syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Rhabdoid tumour predisposition syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
X-linked severe congenital neutropenia (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Shwachman syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Kostmann syndrome (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Autosomal dominant severe congenital neutropaenia	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
B-K mole (nevus) syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Follicular atrophoderma and basal cell epitheliomata	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Multiple self-healing epithelioma of Ferguson-Smith	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
DICER1 syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Multiple endocrine neoplasia, type 2b	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Neurofibromatosis syndrome	Is a	False	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Gorlin syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Hereditary mixed polyposis syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Peutz-Jeghers syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Autoimmune lymphoproliferative syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Proteus syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Hereditary leiomyomatosis and renal cell carcinoma (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
DDX41-related hematologic malignancy predisposition syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Combined immunodeficiency due to CARMIL2 deficiency	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Combined immunodeficiency due to ITK deficiency	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Combined immunodeficiency due to CD70 deficiency (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Progeroid features, hepatocellular carcinoma predisposition syndrome	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
hereditair maligne neuro-endocrien neoplasma van dunne darm	Is a	False	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
At increased risk of hereditary cancer-predisposing syndrome (finding)	Has realization (attribute)	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some	2

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Id	Description	Lang	Type	Status	Case?	Module
2983926014	Hereditary neoplastic syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2988878014	Hereditary cancer-predisposing syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2988939011	Hereditary cancer-predisposing syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6477681000146118	hereditair tumorpredispositiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6477691000146116	erfelijk TPS	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6477701000146116	hereditair tumorpredispositiesyndroom (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)