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1010666007: Stickler syndrome type 4 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4213454015 Stickler syndrome type 4 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
4213455019 Stickler syndrome type 4 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4279060015 Autosomal recessive Stickler syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
7698911000241111 syndrome de Stickler de transmission autosomique récessive fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7698921000241116 syndrome de Stickler de type 4 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
512781000274113 Autosomal-rezessives Stickler-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
591351000274111 Stickler-Syndrom Typ 4 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Stickler syndrome type 4 (disorder) Is a Stickler syndrome true Inferred relationship Some
Stickler syndrome type 4 (disorder) Finding site Joint structure true Inferred relationship Some 1
Stickler syndrome type 4 (disorder) Occurrence Congenital true Inferred relationship Some 1
Stickler syndrome type 4 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Stickler syndrome type 4 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Stickler syndrome type 4 (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Stickler syndrome type 4 (disorder) Finding site Bone structure true Inferred relationship Some 2
Stickler syndrome type 4 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Stickler syndrome type 4 (disorder) Occurrence Congenital true Inferred relationship Some 2
Stickler syndrome type 4 (disorder) Occurrence Congenital true Inferred relationship Some 3
Stickler syndrome type 4 (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Stickler syndrome type 4 (disorder) Finding site Composite structure of hyaluronic acid gel within a stromal network of collagen fibrils true Inferred relationship Some 3
Stickler syndrome type 4 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Stickler syndrome type 4 (disorder) Finding site Retinal structure true Inferred relationship Some 4
Stickler syndrome type 4 (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Some 4
Stickler syndrome type 4 (disorder) Occurrence Congenital true Inferred relationship Some 4
Stickler syndrome type 4 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Stickler syndrome type 4 (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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