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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
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
3657951016 Disease with characteristics of early-onset severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). A contiguous gene syndrome caused by a large deletion involving both the PKD1 and TSC2 genes (16p13.3). Transmission is autosomal dominant. en Definition Active Entire term case sensitive (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
3450611001000111 Nierenkrankheit, polyzystische, autosomal-dominante, Typ 1, mit tuberöser Sklerose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1008121000172117 polykystose rénale autosomique dominante type 1 avec sclérose tubéreuse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1010651000172119 syndrome du gène contigu de la sclérose tubéreuse/polykystose rénale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1008121000172117 polykystose rénale autosomique dominante type 1 avec sclérose tubéreuse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1010651000172119 syndrome du gène contigu de la sclérose tubéreuse/polykystose rénale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3450611001000111 Nierenkrankheit, polyzystische, autosomal-dominante, Typ 1, mit tuberöser Sklerose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Is a Tuberous sclerosis syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Due to Hamartoma (disorder) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Finding site Kidney structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Associated morphology Polycystic change true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Associated morphology Polycystic change false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Finding site Kidney structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Is a Congenital anomaly of the kidney true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Associated morphology Hamartoma false Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Finding site Structure of multiple topographic sites true Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Is a Congenital anomaly of skin (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Associated morphology Neoplasm true Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Associated morphology Neoplasm true Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Finding site Structure of central nervous system true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Associated morphology Neoplasm and/or hamartoma (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Associated morphology Neoplasm and/or hamartoma (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 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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