3508009: Osteogenesis imperfecta with blue sclerae (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

6910013 Osteogenesis imperfecta with blue sclerae en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6911012 Fragilitas ossium hereditaria tarda en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6912017 OI type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6913010 Fragilitas ossium-blue sclerae-otosclerosis syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6914016 Ekman syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6915015 van der Hoeve syndrome with deafness en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6916019 Ekman-Lobstein syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6917011 Adair-Dighton syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6918018 Osteogenesis imperfecta, type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

6919014 Blue sclerae syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6920015 Osteopsathyrosis idiopathica tarda en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6921016 Spurway-Eddowes syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6922011 Osteogenesis imperfecta tarda en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6923018 Osteogenesis imperfecta psathyrotica en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6924012 Lobstein disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6925013 Eddowes syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

486058012 Osteogenesis imperfecta type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

766679012 Osteogenesis imperfecta with blue sclerae (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteogenesis imperfecta with blue sclerae	Is a	Osteogenesis imperfecta	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae	Is a	Scleral discoloration	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Osteogenesis imperfecta with blue sclerae	Associated morphology	Blue color	false	Inferred relationship	Some	2
Osteogenesis imperfecta with blue sclerae	Finding site	Connective tissue structure	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae	Finding site	Scleral structure	false	Inferred relationship	Some	1
Osteogenesis imperfecta with blue sclerae	Finding site	Bone structure	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae	Finding site	Connective tissue	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae	Occurrence	Congenital	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Osteogenesis imperfecta with blue sclerae	Is a	Hereditary disorder of the visual system	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae	Is a	Abnormal blue sclerae	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae	Is a	Congenital anomaly of eye	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae	Is a	Ear, face and neck congenital anomalies	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae	Has definitional manifestation	Blue sclerae	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta	Is a	False	Osteogenesis imperfecta with blue sclerae	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	False	Osteogenesis imperfecta with blue sclerae	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)