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765331004: Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3657948011 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3657949015 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3657950015 Tuberous sclerosis, polycystic kidney disease contiguous gene syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404535014 A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404536010 A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Is a Autosomal dominant polycystic kidney disease (disorder) true Inferred relationship Some
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Occurrence Congenital true Inferred relationship Some 1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Occurrence Congenital true Inferred relationship Some 3
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Finding site Structure of nervous system (body structure) false Inferred relationship Some 1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Is a Tuberous sclerosis syndrome true Inferred relationship Some
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Occurrence Congenital true Inferred relationship Some 2
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Due to Hamartoma (disorder) false Inferred relationship Some 4
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 2
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Finding site Kidney structure true Inferred relationship Some 1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Associated morphology Polycystic change true Inferred relationship Some 1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Finding site Structure of nervous system (body structure) false Inferred relationship Some 3
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Finding site Skin structure true Inferred relationship Some 2
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Associated morphology Polycystic change false Inferred relationship Some 3
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Finding site Kidney structure false Inferred relationship Some 3
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 3
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Is a Congenital anomaly of the kidney true Inferred relationship Some
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Associated morphology Hamartoma false Inferred relationship Some 4
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Occurrence Congenital true Inferred relationship Some 4
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Finding site Structure of multiple topographic sites true Inferred relationship Some 4
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Is a Congenital anomaly of skin true Inferred relationship Some
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Associated morphology Neoplasm true Inferred relationship Some 5
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Finding site Structure of nervous system (body structure) true Inferred relationship Some 5
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Occurrence Congenital true Inferred relationship Some 5
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Finding site Skin structure true Inferred relationship Some 6
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Occurrence Congenital true Inferred relationship Some 6
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Associated morphology Neoplasm true Inferred relationship Some 6
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Finding site Structure of central nervous system (body structure) true Inferred relationship Some 3
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Associated morphology Neoplasm and/or hamartoma (morphologic abnormality) true Inferred relationship Some 3
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Associated morphology Neoplasm and/or hamartoma (morphologic abnormality) true Inferred relationship Some 4
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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