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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
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 Some
Stickler syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature false Inferred relationship Some
Stickler syndrome Is a Congenital anomaly of head false Inferred relationship Some
Stickler syndrome Is a Osteoarthritis false Inferred relationship Some
Stickler syndrome Is a Hereditary vitreoretinopathy true Inferred relationship Some
Stickler syndrome Is a Retinal disorder false Inferred relationship Some
Stickler syndrome Is a Kniest-Stickler dysplasia group false Inferred relationship Some
Stickler syndrome Finding site Retinal structure false Inferred relationship Some
Stickler syndrome Finding site Composite structure of hyaluronic acid gel within a stromal network of collagen fibrils false Inferred relationship Some 5
Stickler syndrome Associated morphology Dysplasia false Inferred relationship Some 1
Stickler syndrome Finding site Musculoskeletal structure of limb false Inferred relationship Some
Stickler syndrome Associated morphology anomalie du développement false Inferred relationship Some
Stickler syndrome Occurrence Congenital false Inferred relationship Some
Stickler syndrome Finding site Bone structure false Inferred relationship Some 1
Stickler syndrome Finding site Skeletal system structure false Inferred relationship Some 1
Stickler syndrome Finding site Joint structure true Inferred relationship Some 1
Stickler syndrome Is a Vitritis false Inferred relationship Some
Stickler syndrome Is a Degenerative disorder of eye false Inferred relationship Some
Stickler syndrome Is a Congenital anomaly of eye false Inferred relationship Some
Stickler syndrome Associated morphology dégénérescence false Inferred relationship Some
Stickler syndrome Associated morphology Eburnation of bone false Inferred relationship Some
Stickler syndrome Finding site Limb structure false Inferred relationship Some 2
Stickler syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 1
Stickler syndrome Associated morphology inflammation false Inferred relationship Some 1
Stickler syndrome Associated morphology anomalie congénitale false Inferred relationship Some 2
Stickler syndrome Is a Osteoarthritis (disorder) false Inferred relationship Some
Stickler syndrome Associated morphology Congenital malformation false Inferred relationship Some 2
Stickler syndrome Finding site Joint structure false Inferred relationship Some 3
Stickler syndrome Associated morphology dégénérescence false Inferred relationship Some 3
Stickler syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 1
Stickler syndrome Finding site Bone structure false Inferred relationship Some 1
Stickler syndrome Associated morphology Congenital malformation false Inferred relationship Some 2
Stickler syndrome Finding site Limb structure false Inferred relationship Some 2
Stickler syndrome Finding site Joint structure false Inferred relationship Some 3
Stickler syndrome Associated morphology dégénérescence false Inferred relationship Some 3
Stickler syndrome Occurrence Congenital true Inferred relationship Some 4
Stickler syndrome Occurrence Congenital false Inferred relationship Some 5
Stickler syndrome Finding site Bone structure false Inferred relationship Some 5
Stickler syndrome Occurrence Congenital true Inferred relationship Some 6
Stickler syndrome Associated morphology anomalie du développement false Inferred relationship Some 6
Stickler syndrome Finding site Face structure false Inferred relationship Some 6
Stickler syndrome Occurrence Congenital false Inferred relationship Some 7
Stickler syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 7
Stickler syndrome Finding site Bone structure false Inferred relationship Some 7
Stickler syndrome Finding site Face structure false Inferred relationship Some 4
Stickler syndrome Associated morphology anomalie du développement false Inferred relationship Some 5
Stickler syndrome Finding site Limb structure false Inferred relationship Some 5
Stickler syndrome Finding site Bone structure true Inferred relationship Some 6
Stickler syndrome Associated morphology dégénérescence false Inferred relationship Some 4
Stickler syndrome Finding site Joint structure false Inferred relationship Some 4
Stickler syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 5
Stickler syndrome Is a Connective tissue hereditary disorder false Inferred relationship Some
Stickler syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Stickler syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 4
Stickler syndrome Occurrence Congenital true Inferred relationship Some 1
Stickler syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Stickler syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Stickler syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Stickler syndrome Is a Congenital anomaly of bone and joint true Inferred relationship Some
Stickler syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
Stickler syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 5
Stickler syndrome Occurrence Congenital true Inferred relationship Some 3
Stickler syndrome Finding site Limb structure false Inferred relationship Some 3
Stickler syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Stickler syndrome Associated morphology dégénérescence false Inferred relationship Some 1
Stickler syndrome Finding site Retinal structure false Inferred relationship Some 2
Stickler syndrome Associated morphology Dysplasia true Inferred relationship Some 6
Stickler syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6
Stickler syndrome Associated morphology Degenerative abnormality true Inferred relationship Some 1
Stickler syndrome Is a Congenital anomaly of retina true Inferred relationship Some
Stickler syndrome Finding site Retinal structure true Inferred relationship Some 4
Stickler syndrome Finding site Composite structure of hyaluronic acid gel within a stromal network of collagen fibrils true Inferred relationship Some 3
Stickler syndrome Is a Musculoskeletal and connective tissue disorder (disorder) true Inferred relationship Some
Stickler syndrome Is a Congenital malformation of vitreous humour true Inferred relationship Some
Stickler syndrome Is a Congenital skeletal dysplasia (disorder) true Inferred relationship Some
Stickler syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Stickler syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Stickler syndrome Is a Degenerative disorder of musculoskeletal system true Inferred relationship Some

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

This concept is not in any reference sets

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