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78675000: Stickler syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
130548012 Stickler syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
130549016 Hereditary arthro-ophthalmopathy en Synonym Active Entire term case insensitive SNOMED CT core module
503889010 Wagner-Stickler syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
503890018 Stickler dysplasia en Synonym Active Entire term case sensitive SNOMED CT core module
503891019 Hereditary progressive arthro-ophthalmopathy en Synonym Active Entire term case insensitive SNOMED CT core module
819641018 Stickler syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core 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
Stickler syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature false Inferred relationship Existential restriction modifier
Stickler syndrome Is a Congenital anomaly of head false Inferred relationship Existential restriction modifier
Stickler syndrome Is a Osteoarthritis false Inferred relationship Existential restriction modifier
Stickler syndrome Is a Hereditary vitreoretinopathy true Inferred relationship Existential restriction modifier
Stickler syndrome Is a Retinal disorder false Inferred relationship Existential restriction modifier
Stickler syndrome Is a Kniest-Stickler dysplasia group false Inferred relationship Existential restriction modifier
Stickler syndrome Finding site Retinal structure false Inferred relationship Existential restriction modifier
Stickler syndrome Finding site Vitreous body structure false Inferred relationship Existential restriction modifier 5
Stickler syndrome Associated morphology Dysplasia false Inferred relationship Existential restriction modifier 1
Stickler syndrome Finding site Musculoskeletal structure of limb false Inferred relationship Existential restriction modifier
Stickler syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier
Stickler syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier
Stickler syndrome Finding site Bone structure false Inferred relationship Existential restriction modifier 1
Stickler syndrome Finding site Skeletal system structure false Inferred relationship Existential restriction modifier 1
Stickler syndrome Finding site Joint structure true Inferred relationship Existential restriction modifier 1
Stickler syndrome Is a Vitritis false Inferred relationship Existential restriction modifier
Stickler syndrome Is a Degenerative disorder of eye false Inferred relationship Existential restriction modifier
Stickler syndrome Is a Congenital anomaly of eye false Inferred relationship Existential restriction modifier
Stickler syndrome Associated morphology Degeneration false Inferred relationship Existential restriction modifier
Stickler syndrome Associated morphology Eburnation of bone false Inferred relationship Existential restriction modifier
Stickler syndrome Finding site Limb structure false Inferred relationship Existential restriction modifier 2
Stickler syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 1
Stickler syndrome Associated morphology Inflammation false Inferred relationship Existential restriction modifier 1
Stickler syndrome Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 2
Stickler syndrome Is a Osteoarthritis true Inferred relationship Existential restriction modifier
Stickler syndrome Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier 2
Stickler syndrome Finding site Joint structure false Inferred relationship Existential restriction modifier 3
Stickler syndrome Associated morphology Degeneration false Inferred relationship Existential restriction modifier 3
Stickler syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 1
Stickler syndrome Finding site Bone structure false Inferred relationship Existential restriction modifier 1
Stickler syndrome Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier 2
Stickler syndrome Finding site Limb structure false Inferred relationship Existential restriction modifier 2
Stickler syndrome Finding site Joint structure false Inferred relationship Existential restriction modifier 3
Stickler syndrome Associated morphology Degeneration false Inferred relationship Existential restriction modifier 3
Stickler syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 4
Stickler syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 5
Stickler syndrome Finding site Bone structure false Inferred relationship Existential restriction modifier 5
Stickler syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 6
Stickler syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 6
Stickler syndrome Finding site Face structure false Inferred relationship Existential restriction modifier 6
Stickler syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 7
Stickler syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 7
Stickler syndrome Finding site Bone structure false Inferred relationship Existential restriction modifier 7
Stickler syndrome Finding site Face structure false Inferred relationship Existential restriction modifier 4
Stickler syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 5
Stickler syndrome Finding site Limb structure false Inferred relationship Existential restriction modifier 5
Stickler syndrome Finding site Bone structure true Inferred relationship Existential restriction modifier 6
Stickler syndrome Associated morphology Degeneration false Inferred relationship Existential restriction modifier 4
Stickler syndrome Finding site Joint structure false Inferred relationship Existential restriction modifier 4
Stickler syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 5
Stickler syndrome Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier
Stickler syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier
Stickler syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 4
Stickler syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Stickler syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Stickler syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Stickler syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 4
Stickler syndrome Is a Congenital anomaly of bone and joint true Inferred relationship Existential restriction modifier
Stickler syndrome Pathological process Pathological developmental process false Inferred relationship Existential restriction modifier 2
Stickler syndrome Pathological process Pathological developmental process false Inferred relationship Existential restriction modifier 5
Stickler syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Stickler syndrome Finding site Limb structure false Inferred relationship Existential restriction modifier 3
Stickler syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 3
Stickler syndrome Associated morphology Degeneration false Inferred relationship Existential restriction modifier 1
Stickler syndrome Finding site Retinal structure false Inferred relationship Existential restriction modifier 2
Stickler syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 6
Stickler syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 6
Stickler syndrome Associated morphology Degenerative abnormality true Inferred relationship Existential restriction modifier 1
Stickler syndrome Is a Congenital anomaly of retina true Inferred relationship Existential restriction modifier
Stickler syndrome Finding site Retinal structure true Inferred relationship Existential restriction modifier 4
Stickler syndrome Finding site Vitreous body structure true Inferred relationship Existential restriction modifier 3
Stickler syndrome Is a Musculoskeletal and connective tissue disorder true Inferred relationship Existential restriction modifier
Stickler syndrome Is a Congenital malformation of vitreous humor true Inferred relationship Existential restriction modifier
Stickler syndrome Is a Congenital skeletal dysplasia true Inferred relationship Existential restriction modifier
Stickler syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier
Stickler syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group
Stickler syndrome type 1 Is a True Stickler syndrome Inferred relationship Existential restriction modifier
Stickler syndrome type 2 Is a True Stickler syndrome Inferred relationship Existential restriction modifier
Stickler syndrome type 4 Is a True Stickler syndrome Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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