FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

78675000: Stickler syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
130548012 Stickler syndrome en Synonym Active Case sensitive SNOMED CT core
130549016 Hereditary arthro-ophthalmopathy en Synonym Active Case insensitive SNOMED CT core
503889010 Wagner-Stickler syndrome en Synonym Active Case sensitive SNOMED CT core
503890018 Stickler dysplasia en Synonym Active Case sensitive SNOMED CT core
503891019 Hereditary progressive arthro-ophthalmopathy en Synonym Active Case insensitive SNOMED CT core
819641018 Stickler syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core


3 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
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 Pathological developmental process true Inferred relationship Some 1
Stickler syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Stickler syndrome Pathological process 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 Pathological developmental process false Inferred relationship Some 2
Stickler syndrome Pathological process 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 Degeneration 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 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 Vitreous body structure true Inferred relationship Some 3
Stickler syndrome Is a Musculoskeletal and connective tissue disorder true Inferred relationship Some
Stickler syndrome Is a Congenital anomaly of vitreous humour true Inferred relationship Some
Stickler syndrome Is a Congenital skeletal dysplasia 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 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 Degeneration 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 Congenital anomaly false Inferred relationship Some 2
Stickler syndrome Is a Osteoarthritis true Inferred relationship Some
Stickler syndrome Associated morphology Congenital malformation false Inferred relationship Some 2
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 Joint structure false Inferred relationship Some 3
Stickler syndrome Associated morphology Degeneration 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 Degeneration 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 Developmental abnormality 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 Developmental abnormality 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 Degeneration 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 Inherited disorder of connective tissue false Inferred relationship Some
Stickler syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Stickler syndrome Finding site Retinal structure false Inferred relationship Some
Stickler syndrome Finding site Vitreous body structure 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 Developmental abnormality 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

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 Is a True Stickler syndrome Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start