699346009 | View Concept | SNOMED CT

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
2988878014 - Hereditary cancer-predisposing syndrome (en) View
2988878014	en	Synonym (core metadata concept)	Hereditary cancer-predisposing syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2988939011 - Hereditary cancer-predisposing syndrome (disorder) (en) View
2988939011	en	Fully specified name (core metadata concept)	Hereditary cancer-predisposing syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2983926014 - Hereditary neoplastic syndrome (en) View
2983926014	en	Synonym (core metadata concept)	Hereditary neoplastic syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (4777296023) - 699346009 -> 32895009 (116680003) View
116680003 \|Is a (attribute)\|	32895009 \|Hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
32895009 View
32895009	Hereditary disease (disorder)	Genetic disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1367660004 View
1367660004	Isolated familial medullary thyroid carcinoma (disorder)	Isolated familial medullary thyroid carcinoma	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1367882008 View
1367882008	Axin2-related attenuated familial adenomatous polyposis (disorder)	Axin2-related attenuated familial polyposis coli	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1288023007 View
1288023007	Hereditary well-differentiated neuroendocrine tumor of small intestine (disorder)	Hereditary well-differentiated neuroendocrine tumor of small intestine	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1279836009 View
1279836009	Familial multinodular goiter syndrome (disorder)	Familial multinodular goiter	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1263460007 View
1263460007	Birt hogg dubé syndrome (disorder)	Birt hogg dubé syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254843006 View
254843006	Familial cancer of breast (disorder)	Familial cancer of breast	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
716657000 View
716657000	Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome (disorder)	Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1230005002 View
1230005002	Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder)	Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1216939003 View
1216939003	Progeroid features, hepatocellular carcinoma predisposition syndrome (disorder)	Ruijs aalfs syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1186712009 View
1186712009	Combined immunodeficiency due to capping protein regulator and myosin 1 linker 2 deficiency (disorder)	Combined immunodeficiency due to rltpr deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1186714005 View
1186714005	Combined immunodeficiency due to interleukin-2 inducible t cell kinase deficiency (disorder)	Combined immunodeficiency due to itk deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1186715006 View
1186715006	Combined immunodeficiency due to cd70 deficiency (disorder)	Combined immunodeficiency due to cd70 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1186725001 View
1186725001	Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome (disorder)	Wild syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1162799008 View
1162799008	Hereditary leiomyomatosis and renal cell carcinoma (disorder)	Familial leiomyomatosis with renal carcinoma	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1172625004 View
1172625004	Dead-box helicase 41-related hematologic malignancy predisposition syndrome (disorder)	Ddx41-related hematologic malignancy predisposition syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254820002 View
254820002	Follicular atrophoderma and basal cell epitheliomata (disorder)	Bazex syndrome	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
716774008 View
716774008	Hereditary keratoacanthoma (disorder)	Multiple keratoacanthoma	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
782823001 View
782823001	Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)	Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783143001 View
783143001	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (disorder)	Cbl (cbl proto-oncogene) syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
787410005 View
787410005	Hereditary mixed polyposis syndrome (disorder)	Hereditary mixed polyposis syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
770896003 View
770896003	Melanogenesis associated transcription factor related melanoma and renal cell carcinoma predisposition syndrome (disorder)	Mitf-related melanoma and renal cell carcinoma predisposition syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
770942003 View
770942003	Kostmann syndrome (disorder)	Kostmann syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
770947009 View
770947009	Autosomal dominant severe congenital neutropenia (disorder)	Autosomal dominant severe congenital neutropenia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771309000 View
771309000	Autosomal recessive lymphoproliferative disease (disorder)	Autosomal recessive lymphoproliferative disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771474005 View
771474005	Gastric adenocarcinoma and proximal polyposis of stomach (disorder)	Familial fundic gland polyposis with gastric cancer	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
772130002 View
772130002	Rhabdoid tumor predisposition syndrome (disorder)	Familial rhabdoid tumor	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773426004 View
773426004	Lamin a/c related cardiocutaneous progeria syndrome (disorder)	Lmna-related cardiocutaneous progeria syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
717736007 View
717736007	Familial renal cell carcinoma (disorder)	Familial renal cell carcinoma	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
764946008 View
764946008	Constitutional mismatch repair deficiency syndrome (disorder)	Constitutional mismatch repair deficiency syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
765057007 View
765057007	Brca1 associated protein 1 tumor predisposition syndrome (disorder)	Bap1 tumor predisposition syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766707003 View
766707003	Inherited cancer-predisposing syndrome due to biallelic brca2 mutation (disorder)	Inherited cancer-predisposing syndrome due to biallelic brca2 mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766879006 View
766879006	Combined immunodeficiency due to ox40 deficiency (disorder)	Combined immunodeficiency due to ox40 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723410002 View
723410002	N syndrome (disorder)	N syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723508002 View
723508002	Ras-associated autoimmune leukoproliferative disease (disorder)	Autoimmune lymphoproliferative syndrome type 4	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
724177005 View
724177005	Ligase 4 syndrome (disorder)	Lig4 syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
725034002 View
725034002	Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder)	Familial platelet disorder with associated myeloid malignancy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
718882006 View
718882006	X-linked severe congenital neutropenia (disorder)	X-linked severe congenital neutropenia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
721093000 View
721093000	Dianzani autoimmune lymphoproliferative disease (disorder)	Dianzani autoimmune lymphoproliferative disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721904001 View
721904001	Rombo syndrome (disorder)	Rombo syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722202006 View
722202006	Palmoplantar keratoderma, 46,xx sex reversal, predisposition to squamous cell carcinoma syndrome (disorder)	Palmoplantar keratoderma, 46,xx sex reversal, predisposition to squamous cell carcinoma syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722231005 View
722231005	Perlman syndrome (disorder)	Perlman syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722290008 View
722290008	Autoimmune lymphoproliferative syndrome with recurrent viral infection (disorder)	Caspase 8 deficiency syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722377004 View
722377004	Paraganglioma and gastric stromal sarcoma syndrome (disorder)	Carney stratakis dyad	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722859001 View
722859001	Pten hamartoma tumor syndrome (disorder)	Pten hamartoma tumor syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715561008 View
715561008	Hereditary papillary renal cell carcinoma (disorder)	Hereditary papillary renal cell carcinoma	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
716318002 View
716318002	Lynch syndrome (disorder)	Lynch syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
716859000 View
716859000	Hereditary diffuse carcinoma of stomach (disorder)	Familial diffuse gastric cancer	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
717968005 View
717968005	Melanoma and neural system tumor syndrome (disorder)	Melanoma and neural system tumor syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
702411003 View
702411003	Pleuropulmonary blastoma family tumor susceptibility syndrome (disorder)	Dicer1 syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
702444009 View
702444009	Autoimmune lymphoproliferative syndrome (disorder)	Canale-smith syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
700056005 View
700056005	Mosaic variegated aneuploidy syndrome (disorder)	Mosaic variegated aneuploidy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
700057001 View
700057001	Emberger syndrome (disorder)	Emberger syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
700058006 View
700058006	Ataxia-telangiectasia-like disorder (disorder)	Atld	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
700062000 View
700062000	Schöpf-schulz-passarge syndrome (disorder)	Schöpf schulz passarge syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
700063005 View
700063005	Macrocephaly-capillary malformation (disorder)	Macrocephaly-capillary malformation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
439143004 View
439143004	Simpson-golabi-behmel syndrome (disorder)	Bulldog syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
428850001 View
428850001	Li-fraumeni syndrome (disorder)	Li-fraumeni syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
410056006 View
410056006	Tyrosinemia type i (disorder)	Tyrosinemia type 1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
69408002 View
69408002	Gorlin syndrome (disorder)	Gorlin syndrome	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
404160007 View
404160007	Langerhans cell histiocytosis - hashimoto-pritzker type (disorder)	Hashimoto-pritzker syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
389216001 View
389216001	Diaphyseal medullary stenosis with bone malignancy (disorder)	Diaphyseal medullary stenosis with bone malignancy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
72900001 View
72900001	Familial multiple polyposis syndrome (disorder)	Polyposis coli	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
7199000 View
7199000	Tuberous sclerosis syndrome (disorder)	Epiloia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
18899000 View
18899000	Schinzel-giedion syndrome (disorder)	Schinzel-giedon syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
21086008 View
21086008	Cockayne syndrome (disorder)	Cokayne syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
23150001 View
23150001	Proteus syndrome (disorder)	Proteus syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
23238000 View
23238000	Common variable agammaglobulinemia (disorder)	Cvag	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
30575002 View
30575002	Fanconi's anemia (disorder)	Fanconi anemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
31742004 View
31742004	Arteriohepatic dysplasia (disorder)	Alagille syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
36070007 View
36070007	Wiskott-aldrich syndrome (disorder)	Aldrich syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
36517007 View
36517007	Polyostotic fibrous dysplasia of bone (disorder)	Albright syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
44600005 View
44600005	Xeroderma pigmentosum (disorder)	Kaposi dermatosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
45582004 View
45582004	Rubinstein-taybi syndrome (disorder)	Rubinstein-taybi syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
46659004 View
46659004	Von hippel-lindau syndrome (disorder)	Lindau' disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
51626007 View
51626007	Werner syndrome (disorder)	Pangeria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
54411001 View
54411001	Peutz-jeghers syndrome (disorder)	Perioral lentiginosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
61530001 View
61530001	Multiple endocrine neoplasia, type 2b (disorder)	Men, type 3	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
61808009 View
61808009	Multiple endocrine neoplasia, type 2 (disorder)	Mea, type 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
68504005 View
68504005	Ataxia-telangiectasia syndrome (disorder)	Louis-bar syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
69093006 View
69093006	Rothmund-thomson syndrome (disorder)	Poikiloderma congenitale	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
71988008 View
71988008	Aase syndrome (disorder)	Aase syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
74911008 View
74911008	Dyskeratosis congenita (disorder)	Dyskeratosis congenita	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
75968004 View
75968004	Sotos' syndrome (disorder)	Soto syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
80651009 View
80651009	Aicardi's syndrome (disorder)	Aicardi syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
81780002 View
81780002	Beckwith-wiedemann syndrome (disorder)	Beckwith's syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
89454001 View
89454001	Shwachman syndrome (disorder)	Shwachman syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
111030006 View
111030006	Howel-evans' syndrome (disorder)	Howel evans syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
205824006 View
205824006	Noonan's syndrome (disorder)	Noonan syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234638009 View
234638009	Microcephaly, normal intelligence and immunodeficiency (disorder)	Seemanova syndrome ii	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
236385009 View
236385009	Drash syndrome (disorder)	Drash syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254659009 View
254659009	Multiple self-healing epithelioma of ferguson-smith (disorder)	Ferguson-smith tumor	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254819008 View
254819008	Atypical mole syndrome (disorder)	Atypical mole syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
309776008 View
309776008	Costello syndrome (disorder)	Costello syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
315058005 View
315058005	Hereditary nonpolyposis colon cancer (disorder)	Lynch syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

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ExtendedMap object (654b9f5b-7fbd-5b05-a948-90c06aff153a) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Z80.9	TRUE	ALWAYS Z80.9	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

Terminology chevron_right Concepts chevron_right 699346009

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Terminology chevron_right Concepts chevron_right 699346009

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