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58037000: Cowden syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
96476011 Cowden syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
96477019 Multiple hamartoma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
796725015 Cowden syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
1231795010 Cowden's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1498111000005115 Cowdens syndrom da Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Danish module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cowden syndrome Is a Congenital anomaly of trunk false Inferred relationship Some
Cowden syndrome Is a Congenital anomaly of digestive system false Inferred relationship Some
Cowden syndrome Is a hamartomatøs lidelse false Inferred relationship Some
Cowden syndrome Is a Intestinal polyposis syndrome true Inferred relationship Some
Cowden syndrome Is a Multisystem disorder M-N false Inferred relationship Some
Cowden syndrome Is a Familiært multitumorsyndrom false Inferred relationship Some
Cowden syndrome Associated morphology Hamartoma false Inferred relationship Some
Cowden syndrome Finding site Intestinal structure false Inferred relationship Some 1
Cowden syndrome Occurrence Congenital false Inferred relationship Some
Cowden syndrome Finding site Skin structure false Inferred relationship Some
Cowden syndrome Is a multisystemsygdom false Inferred relationship Some
Cowden syndrome Associated morphology Neoplasm false Inferred relationship Some
Cowden syndrome Associated morphology kongenit anomali false Inferred relationship Some
Cowden syndrome Associated morphology Polyp false Inferred relationship Some 1
Cowden syndrome Finding site Intestinal structure true Inferred relationship Some 1
Cowden syndrome Associated morphology Polyp true Inferred relationship Some 1
Cowden syndrome Is a Digestive system hereditary disorder true Inferred relationship Some
Cowden syndrome Is a Congenital hamartoma (disorder) false Inferred relationship Some
Cowden syndrome Occurrence Congenital true Inferred relationship Some 2
Cowden syndrome Associated morphology Hamartoma true Inferred relationship Some 2
Cowden syndrome Is a A term defining a group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Disease onset depends on the specific disorder. The most important component seen in this group are malignancies. true Inferred relationship Some
Cowden syndrome Occurrence Congenital true Inferred relationship Some 1
Cowden syndrome Finding site Skin structure true Inferred relationship Some 2
Cowden syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
Cowden syndrome Is a Congenital anomaly of intestinal tract true Inferred relationship Some
Cowden syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Family history of Cowden syndrome (situation) Associated finding True Cowden syndrome Inferred relationship Some 1
Gingival enlargement due to Cowden syndrome Due to True Cowden syndrome Inferred relationship Some 2

Reference Sets

Description inactivation indicator reference set

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