FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

699346009: Hereditary cancer-predisposing syndrome (disorder)

Status: current, Primitive. Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2983926014 Hereditary neoplastic syndrome en Synonym Active Case insensitive SNOMED CT core
2988878014 Hereditary cancer-predisposing syndrome en Synonym Active Case insensitive SNOMED CT core
2988939011 Hereditary cancer-predisposing syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

141 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary neoplastic syndrome Is a Hereditary disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Gastric adenocarcinoma and proximal polyposis of stomach Is a True Hereditary neoplastic syndrome Inferred relationship Some
LMNA-related cardiocutaneous progeria syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Oligodontia and cancer predisposition syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Rhabdoid tumour predisposition syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
X-linked severe congenital neutropenia Is a True Hereditary neoplastic syndrome Inferred relationship Some
Shwachman syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Kostmann syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Autosomal dominant severe congenital neutropaenia Is a True Hereditary neoplastic syndrome Inferred relationship Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia Is a True Hereditary neoplastic syndrome Inferred relationship Some
B-K mole (nevus) syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Follicular atrophoderma and basal cell epitheliomata Is a True Hereditary neoplastic syndrome Inferred relationship Some
Multiple self-healing epithelioma of Ferguson-Smith Is a True Hereditary neoplastic syndrome Inferred relationship Some
DICER1 syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Multiple endocrine neoplasia, type 3 Is a True Hereditary neoplastic syndrome Inferred relationship Some
Neurofibromatosis syndrome Is a False Hereditary neoplastic syndrome Inferred relationship Some
Gorlin syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Hereditary mixed polyposis syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Peutz-Jeghers syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Autoimmune lymphoproliferative syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Proteus syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Hereditary leiomyomatosis and renal cell carcinoma Is a True Hereditary neoplastic syndrome Inferred relationship Some
DDX41-related haematologic malignancy predisposition syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Combined immunodeficiency due to CARMIL2 deficiency Is a True Hereditary neoplastic syndrome Inferred relationship Some
Combined immunodeficiency due to ITK deficiency Is a True Hereditary neoplastic syndrome Inferred relationship Some
Combined immunodeficiency due to CD70 deficiency Is a True Hereditary neoplastic syndrome Inferred relationship Some
Warts, immunodeficiency, lymphoedema, anogenital dysplasia syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Progeroid features, hepatocellular carcinoma predisposition syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Hereditary malignant neuroendocrine neoplasm of small intestine Is a True Hereditary neoplastic syndrome Inferred relationship Some
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Diaphyseal medullary stenosis with bone malignancy Is a True Hereditary neoplastic syndrome Inferred relationship Some
Birt Hogg Dubé syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Costello syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Dyskeratosis congenita Is a True Hereditary neoplastic syndrome Inferred relationship Some
Beckwith-Wiedemann syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Familial multiple tumour syndrome Is a False Hereditary neoplastic syndrome Inferred relationship Some
Von Hippel-Lindau syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Multiple endocrine neoplasia, type 2 Is a True Hereditary neoplastic syndrome Inferred relationship Some
Familial cancer of breast Is a True Hereditary neoplastic syndrome Inferred relationship Some
Xeroderma pigmentosum Is a True Hereditary neoplastic syndrome Inferred relationship Some
Nephroblastoma Is a False Hereditary neoplastic syndrome Inferred relationship Some
Sotos' syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Fanconi's anaemia Is a True Hereditary neoplastic syndrome Inferred relationship Some
Microcephaly, normal intelligence and immunodeficiency Is a True Hereditary neoplastic syndrome Inferred relationship Some
Familial multiple polyposis syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Simpson-Golabi-Behmel syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Drash syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Li-Fraumeni syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Bannayan syndrome Is a False Hereditary neoplastic syndrome Inferred relationship Some
Cockayne syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Noonan's syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Hereditary nonpolyposis colon cancer Is a True Hereditary neoplastic syndrome Inferred relationship Some
Multiple endocrine neoplasia, type 1 Is a True Hereditary neoplastic syndrome Inferred relationship Some
Arteriohepatic dysplasia Is a True Hereditary neoplastic syndrome Inferred relationship Some
Ataxia-telangiectasia syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Aase syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Rubinstein-Taybi syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Polyostotic fibrous dysplasia of bone Is a True Hereditary neoplastic syndrome Inferred relationship Some
Schinzel-Giedion syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Werner syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Tuberous sclerosis syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Congenital neutropenia Is a False Hereditary neoplastic syndrome Inferred relationship Some
Mosaic variegated aneuploidy syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Emberger syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Ataxia-telangiectasia-like disorder Is a True Hereditary neoplastic syndrome Inferred relationship Some
Neurofibramatosis 3 Is a False Hereditary neoplastic syndrome Inferred relationship Some
Neurofibromatosis 2 Is a False Hereditary neoplastic syndrome Inferred relationship Some
Neurofibromatosis 1 Is a False Hereditary neoplastic syndrome Inferred relationship Some
Schöpf-Schulz-Passarge syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Megalencephaly capillary malformation Is a True Hereditary neoplastic syndrome Inferred relationship Some
Familial nonpolyposis colorectal cancer Is a False Hereditary neoplastic syndrome Inferred relationship Some
Aicardi's syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Common variable agammaglobulinaemia Is a True Hereditary neoplastic syndrome Inferred relationship Some
Langerhans cell histiocytosis - Hashimoto-Pritzker type Is a True Hereditary neoplastic syndrome Inferred relationship Some
Rothmund-Thomson syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Wiskott-Aldrich syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Tyrosinaemia type I Is a True Hereditary neoplastic syndrome Inferred relationship Some
Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Hereditary keratoacanthoma Is a True Hereditary neoplastic syndrome Inferred relationship Some
Hereditary diffuse carcinoma of stomach Is a True Hereditary neoplastic syndrome Inferred relationship Some
Melanoma and neural system tumour syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Lynch syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Rombo syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Autoimmune lymphoproliferative syndrome with recurrent viral infection Is a True Hereditary neoplastic syndrome Inferred relationship Some
Perlman syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Carney Stratakis syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
N syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Dianzani autoimmune lymphoproliferative disease Is a True Hereditary neoplastic syndrome Inferred relationship Some
RAS-associated autoimmune leucoproliferative disease Is a True Hereditary neoplastic syndrome Inferred relationship Some
Familial platelet syndrome with predisposition to acute myelogenous leukaemia Is a True Hereditary neoplastic syndrome Inferred relationship Some
LIG4 syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Hereditary papillary renal cell carcinoma Is a True Hereditary neoplastic syndrome Inferred relationship Some
PTEN hamartoma tumour syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Constitutional mismatch repair deficiency syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Familial renal cell carcinoma Is a True Hereditary neoplastic syndrome Inferred relationship Some
Hereditary clear cell renal cell carcinoma Is a False Hereditary neoplastic syndrome Inferred relationship Some
BAP1 tumour predisposition syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutation Is a True Hereditary neoplastic syndrome Inferred relationship Some
Combined immunodeficiency due to OX40 deficiency Is a True Hereditary neoplastic syndrome Inferred relationship Some
MITF (melanogenesis associated transcription factor) related melanoma and renal cell carcinoma predisposition syndrome Is a True Hereditary neoplastic syndrome Inferred relationship Some

Page 1 of 2 End

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start