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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
1018641000172119 arthro-ophtalmoplégie héréditaire progressive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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
327441000077116 syndrome de Stickler fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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
611981000077114 syndrome de Stickler (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
819641018 Stickler syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core


3 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Stickler syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 4
Stickler syndrome survenue (attribut) congénital 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 est un(e) (attribut) 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 survenue (attribut) congénital true Inferred relationship Some 3
Stickler syndrome localisation d'une constatation (attribut) structure d'un membre false Inferred relationship Some 3
Stickler syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Stickler syndrome morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Stickler syndrome localisation d'une constatation (attribut) structure de la rétine false Inferred relationship Some 2
Stickler syndrome morphologie associée (attribut) dysplasie true Inferred relationship Some 6
Stickler syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6
Stickler syndrome morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Stickler syndrome est un(e) (attribut) Congenital anomaly of retina (disorder) true Inferred relationship Some
Stickler syndrome localisation d'une constatation (attribut) structure de la rétine true Inferred relationship Some 4
Stickler syndrome localisation d'une constatation (attribut) Vitreous body structure true Inferred relationship Some 3
Stickler syndrome est un(e) (attribut) Musculoskeletal and connective tissue disorder (disorder) true Inferred relationship Some
Stickler syndrome est un(e) (attribut) Congenital malformation of vitreous humour true Inferred relationship Some
Stickler syndrome est un(e) (attribut) Skeletal dysplasia true Inferred relationship Some
Stickler syndrome est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Stickler syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Stickler syndrome est un(e) (attribut) Vitritis false Inferred relationship Some
Stickler syndrome est un(e) (attribut) affection dégénérative de l'œil false Inferred relationship Some
Stickler syndrome est un(e) (attribut) Congenital anomaly of eye false Inferred relationship Some
Stickler syndrome morphologie associée (attribut) dégénérescence false Inferred relationship Some
Stickler syndrome morphologie associée (attribut) Eburnation of bone false Inferred relationship Some
Stickler syndrome localisation d'une constatation (attribut) structure d'un membre false Inferred relationship Some 2
Stickler syndrome morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Stickler syndrome morphologie associée (attribut) inflammation false Inferred relationship Some 1
Stickler syndrome morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 2
Stickler syndrome est un(e) (attribut) ostéoarthrite (trouble) true Inferred relationship Some
Stickler syndrome morphologie associée (attribut) Congenital malformation false Inferred relationship Some 2
Stickler syndrome est un(e) (attribut) Congenital anomaly of joint false Inferred relationship Some
Stickler syndrome est un(e) (attribut) Multiple malformation syndrome with facial-limb defects as major feature false Inferred relationship Some
Stickler syndrome est un(e) (attribut) Congenital anomaly of head false Inferred relationship Some
Stickler syndrome est un(e) (attribut) Osteoarthritis false Inferred relationship Some
Stickler syndrome est un(e) (attribut) Hereditary vitreoretinopathy true Inferred relationship Some
Stickler syndrome est un(e) (attribut) trouble rétinien (trouble) false Inferred relationship Some
Stickler syndrome est un(e) (attribut) Kniest-Stickler dysplasia group false Inferred relationship Some
Stickler syndrome localisation d'une constatation (attribut) structure articulaire false Inferred relationship Some 3
Stickler syndrome morphologie associée (attribut) dégénérescence false Inferred relationship Some 3
Stickler syndrome morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Stickler syndrome localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 1
Stickler syndrome morphologie associée (attribut) Congenital malformation false Inferred relationship Some 2
Stickler syndrome localisation d'une constatation (attribut) structure d'un membre false Inferred relationship Some 2
Stickler syndrome localisation d'une constatation (attribut) structure articulaire false Inferred relationship Some 3
Stickler syndrome morphologie associée (attribut) dégénérescence false Inferred relationship Some 3
Stickler syndrome survenue (attribut) congénital true Inferred relationship Some 4
Stickler syndrome survenue (attribut) congénital false Inferred relationship Some 5
Stickler syndrome localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 5
Stickler syndrome survenue (attribut) congénital true Inferred relationship Some 6
Stickler syndrome morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 6
Stickler syndrome localisation d'une constatation (attribut) face false Inferred relationship Some 6
Stickler syndrome survenue (attribut) congénital false Inferred relationship Some 7
Stickler syndrome morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 7
Stickler syndrome localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 7
Stickler syndrome localisation d'une constatation (attribut) face false Inferred relationship Some 4
Stickler syndrome morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
Stickler syndrome localisation d'une constatation (attribut) structure d'un membre false Inferred relationship Some 5
Stickler syndrome localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 6
Stickler syndrome morphologie associée (attribut) dégénérescence false Inferred relationship Some 4
Stickler syndrome localisation d'une constatation (attribut) structure articulaire false Inferred relationship Some 4
Stickler syndrome morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 5
Stickler syndrome est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Stickler syndrome est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Stickler syndrome localisation d'une constatation (attribut) structure de la rétine false Inferred relationship Some
Stickler syndrome localisation d'une constatation (attribut) Vitreous body structure false Inferred relationship Some 5
Stickler syndrome morphologie associée (attribut) dysplasie false Inferred relationship Some 1
Stickler syndrome localisation d'une constatation (attribut) Musculoskeletal structure of limb false Inferred relationship Some
Stickler syndrome morphologie associée (attribut) Developmental abnormality false Inferred relationship Some
Stickler syndrome survenue (attribut) congénital false Inferred relationship Some
Stickler syndrome localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 1
Stickler syndrome localisation d'une constatation (attribut) Skeletal system structure false Inferred relationship Some 1
Stickler syndrome localisation d'une constatation (attribut) structure articulaire true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Stickler syndrome type 1 est un(e) (attribut) True Stickler syndrome Inferred relationship Some
Stickler syndrome type 2 est un(e) (attribut) True Stickler syndrome Inferred relationship Some
Stickler syndrome type 4 (disorder) est un(e) (attribut) True Stickler syndrome Inferred relationship Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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