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78675000: Stickler 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 Reference Sets
130548012 Stickler syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core Danish translated concepts reference set (foundation metadata concept)
130549016 Hereditary arthro-ophthalmopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
503889010 Wagner-Stickler syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
503890018 Stickler dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
503891019 Hereditary progressive arthro-ophthalmopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
819641018 Stickler syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
1518811000005116 Hereditær artrooftalmopati da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept) Danish language reference set (foundation metadata concept): Preferred (foundation metadata concept)

3 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Stickler syndrome (disorder) Is a Congenital anomaly of joint (disorder) false Inferred relationship Some
Stickler syndrome (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature false Inferred relationship Some
Stickler syndrome (disorder) Is a Congenital anomaly of head (disorder) false Inferred relationship Some
Stickler syndrome (disorder) Is a Osteoarthritis false Inferred relationship Some
Stickler syndrome (disorder) Is a Hereditary vitreoretinopathy true Inferred relationship Some
Stickler syndrome (disorder) Is a Retinal disorder false Inferred relationship Some
Stickler syndrome (disorder) Is a Kniest-Stickler-dysplasigruppe false Inferred relationship Some
Stickler syndrome (disorder) Finding site Retinal structure false Inferred relationship Some
Stickler syndrome (disorder) Finding site Vitreous body structure false Inferred relationship Some 5
Stickler syndrome (disorder) Associated morphology Dysplasia false Inferred relationship Some 1
Stickler syndrome (disorder) Finding site Musculoskeletal structure of limb false Inferred relationship Some
Stickler syndrome (disorder) Associated morphology dysgenese false Inferred relationship Some
Stickler syndrome (disorder) Occurrence Congenital false Inferred relationship Some
Stickler syndrome (disorder) Finding site Bone structure false Inferred relationship Some 1
Stickler syndrome (disorder) Finding site Skeletal system structure false Inferred relationship Some 1
Stickler syndrome (disorder) Finding site Joint structure true Inferred relationship Some 1
Stickler syndrome (disorder) Is a Vitritis false Inferred relationship Some
Stickler syndrome (disorder) Is a Degenerative disorder of eye false Inferred relationship Some
Stickler syndrome (disorder) Is a Congenital anomaly of eye false Inferred relationship Some
Stickler syndrome (disorder) Associated morphology Degeneration false Inferred relationship Some
Stickler syndrome (disorder) Associated morphology Eburnation of bone false Inferred relationship Some
Stickler syndrome (disorder) Finding site Limb structure false Inferred relationship Some 2
Stickler syndrome (disorder) Associated morphology kongenit dysplasi false Inferred relationship Some 1
Stickler syndrome (disorder) Associated morphology Inflammation false Inferred relationship Some 1
Stickler syndrome (disorder) Associated morphology kongenit anomali false Inferred relationship Some 2
Stickler syndrome (disorder) Is a Osteoarthritis (disorder) true Inferred relationship Some
Stickler syndrome (disorder) Associated morphology Kongenit malformation false Inferred relationship Some 2
Stickler syndrome (disorder) Finding site Joint structure false Inferred relationship Some 3
Stickler syndrome (disorder) Associated morphology Degeneration false Inferred relationship Some 3
Stickler syndrome (disorder) Associated morphology kongenit dysplasi false Inferred relationship Some 1
Stickler syndrome (disorder) Finding site Bone structure false Inferred relationship Some 1
Stickler syndrome (disorder) Associated morphology Kongenit malformation false Inferred relationship Some 2
Stickler syndrome (disorder) Finding site Limb structure false Inferred relationship Some 2
Stickler syndrome (disorder) Finding site Joint structure false Inferred relationship Some 3
Stickler syndrome (disorder) Associated morphology Degeneration false Inferred relationship Some 3
Stickler syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Stickler syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Stickler syndrome (disorder) Finding site Bone structure false Inferred relationship Some 5
Stickler syndrome (disorder) Occurrence Congenital true Inferred relationship Some 6
Stickler syndrome (disorder) Associated morphology dysgenese false Inferred relationship Some 6
Stickler syndrome (disorder) Finding site Face structure false Inferred relationship Some 6
Stickler syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Stickler syndrome (disorder) Associated morphology kongenit dysplasi false Inferred relationship Some 7
Stickler syndrome (disorder) Finding site Bone structure false Inferred relationship Some 7
Stickler syndrome (disorder) Finding site Face structure false Inferred relationship Some 4
Stickler syndrome (disorder) Associated morphology dysgenese false Inferred relationship Some 5
Stickler syndrome (disorder) Finding site Limb structure false Inferred relationship Some 5
Stickler syndrome (disorder) Finding site Bone structure true Inferred relationship Some 6
Stickler syndrome (disorder) Associated morphology Degeneration false Inferred relationship Some 4
Stickler syndrome (disorder) Finding site Joint structure false Inferred relationship Some 4
Stickler syndrome (disorder) Associated morphology kongenit dysplasi false Inferred relationship Some 5
Stickler syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Stickler syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Stickler syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Stickler syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Stickler syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Stickler syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Stickler syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Stickler syndrome (disorder) Is a Congenital anomaly of bone and joint (disorder) true Inferred relationship Some
Stickler syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
Stickler syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 5
Stickler syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Stickler syndrome (disorder) Finding site Limb structure false Inferred relationship Some 3
Stickler syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Stickler syndrome (disorder) Associated morphology Degeneration false Inferred relationship Some 1
Stickler syndrome (disorder) Finding site Retinal structure false Inferred relationship Some 2
Stickler syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 6
Stickler syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6
Stickler syndrome (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Some 1
Stickler syndrome (disorder) Is a Congenital anomaly of retina (disorder) true Inferred relationship Some
Stickler syndrome (disorder) Finding site Retinal structure true Inferred relationship Some 4
Stickler syndrome (disorder) Finding site Vitreous body structure true Inferred relationship Some 3
Stickler syndrome (disorder) Is a Musculoskeletal and connective tissue disorder (disorder) true Inferred relationship Some
Stickler syndrome (disorder) Is a Congenital malformation of vitreous humour true Inferred relationship Some
Stickler syndrome (disorder) Is a Skeletal dysplasia true Inferred relationship Some
Stickler syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Stickler syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Stickler syndrome type 1 Is a True Stickler syndrome (disorder) Inferred relationship Some
Stickler syndrome type 2 Is a True Stickler syndrome (disorder) Inferred relationship Some
Stickler syndrome type 4 (disorder) Is a True Stickler syndrome (disorder) Inferred relationship Some

Reference Sets

Danish translated concepts reference set (foundation metadata concept)

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