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725141006: Atelosteogenesis type 1 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3440650017 Atelosteogenesis type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3440651018 Atelosteogenesis type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3440652013 Atelosteogenesis type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3440653015 Giant cell chondrodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403413010 A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403414016 A Pierre Robin syndrome associated with bone disease characterised by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3440650017 Atelosteogenesis type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3440651018 Atelosteogenesis type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3440652013 Atelosteogenesis type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3440653015 Giant cell chondrodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3440654014 A perinatally lethal skeletal dysplasia with manifestations of severe short-limbed dwarfism, joint dislocations, clubfeet along with distinctive facies and radiographic findings. Affected neonates are stillborn or die rapidly after birth. Craniofacial dysmorphism has characteristics of prominent forehead, hypertelorism, a depressed nasal bridge with a grooved tip, micrognathia and frequently a cleft palate. There is a continuum with overlapping clinical findings between atelosteogenesis I, atelosteogenesis III and boomerang dysplasia. This disease results from heterozygous mutations in exons 2-5 and 27-33 of the gene encoding filamin B (FLNB) located to 3p14. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403413010 A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403414016 A Pierre Robin syndrome associated with bone disease characterised by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3440651001000110 Atelosteogenesis Typ I de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
887361000172112 AO1 - atélostéogenèse type I fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
988731000172111 atélostéogenèse type I fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
887361000172112 AO1 - atélostéogenèse type I fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
988731000172111 atélostéogenèse type I fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3440651001000110 Atelosteogenesis Typ I 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
Atelosteogenesis type 1 Is a Atelosteogenesis true Inferred relationship Existential restriction modifier (core metadata concept)
Atelosteogenesis type 1 Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Atelosteogenesis type 1 Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Atelosteogenesis type 1 Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Atelosteogenesis type 1 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Atelosteogenesis type 1 Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Atelosteogenesis type 1 Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Atelosteogenesis type 1 Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Atelosteogenesis type 1 Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Atelosteogenesis type 1 Associated morphology Dislocation true Inferred relationship Existential restriction modifier (core metadata concept) 2
Atelosteogenesis type 1 Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Atelosteogenesis type 1 Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
Atelosteogenesis type 1 Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 3
Atelosteogenesis type 1 Due to Spontaneous event (event) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Atelosteogenesis type 1 Associated morphology Damage false Inferred relationship Existential restriction modifier (core metadata concept) 5
Atelosteogenesis type 1 Is a Bone injury true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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