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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
130548012 Stickler syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
130549016 Hereditary arthro-ophthalmopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
503889010 Wagner-Stickler syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
503890018 Stickler dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
503891019 Hereditary progressive arthro-ophthalmopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
819641018 Stickler syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
130548012 Stickler syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
130548012 Stickler syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
130549016 Hereditary arthro-ophthalmopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
130549016 Hereditary arthro-ophthalmopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
503889010 Wagner-Stickler syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
503890018 Stickler dysplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
503890018 Stickler dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
503891019 Hereditary progressive arthro-ophthalmopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
503891019 Hereditary progressive arthro-ophthalmopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
819641018 Stickler syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
819641018 Stickler syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
648451000274113 Hereditäre progressive Arthro-Ophthalmopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3433221001000113 Stickler-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
327441000077116 syndrome de Stickler fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1018641000172119 arthro-ophtalmoplégie héréditaire progressive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
327441000077116 syndrome de Stickler fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1018641000172119 arthro-ophtalmoplégie héréditaire progressive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
648451000274113 Hereditäre progressive Arthro-Ophthalmopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3433221001000113 Stickler-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


3 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Stickler syndrome Is a Congenital anomaly of joint false Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature false Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Is a Congenital anomaly of head false Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Is a Osteoarthritis false Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Is a Hereditary vitreoretinopathy true Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Is a Retinal disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Is a Kniest-Stickler dysplasia group false Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Finding site Retinal structure false Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Finding site Vitreous body structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Stickler syndrome Associated morphology Dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Stickler syndrome Finding site Musculoskeletal structure of limb (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Stickler syndrome Finding site Skeletal system structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Stickler syndrome Finding site Joint structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Stickler syndrome Is a Vitritis false Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Is a Degenerative disorder of eye (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Is a Congenital anomaly of eye false Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Associated morphology Eburnation of bone false Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Stickler syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Stickler syndrome Associated morphology inflammation false Inferred relationship Existential restriction modifier (core metadata concept) 1
Stickler syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Stickler syndrome Is a Osteoarthritis (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept) 2
Stickler syndrome Finding site Joint structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Stickler syndrome Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 3
Stickler syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Stickler syndrome Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Stickler syndrome Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept) 2
Stickler syndrome Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Stickler syndrome Finding site Joint structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Stickler syndrome Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 3
Stickler syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Stickler syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Stickler syndrome Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Stickler syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 6
Stickler syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
Stickler syndrome Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 6
Stickler syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Stickler syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 7
Stickler syndrome Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 7
Stickler syndrome Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Stickler syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Stickler syndrome Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Stickler syndrome Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 6
Stickler syndrome Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 4
Stickler syndrome Finding site Joint structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Stickler syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 5
Stickler syndrome Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Stickler syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Stickler syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Stickler syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Stickler syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Stickler syndrome Is a Congenital anomaly of bone and joint true Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Stickler syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Stickler syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Stickler syndrome Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Stickler syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Stickler syndrome Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Stickler syndrome Finding site Retinal structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Stickler syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 6
Stickler syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Stickler syndrome Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Stickler syndrome Is a Congenital anomaly of retina true Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Finding site Retinal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Stickler syndrome Finding site Vitreous body structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Stickler syndrome Is a Musculoskeletal and connective tissue disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Is a Congenital malformation of vitreous humour true Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Is a Skeletal dysplasia true Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Is a Degenerative disorder of musculoskeletal system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group
Stickler syndrome type 1 (disorder) Is a True Stickler syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome type 2 Is a True Stickler syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome type 4 (disorder) Is a True Stickler syndrome Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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