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25606004: Ehlers-Danlos syndrome, hydroxylysine-deficient (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
42925018 Ehlers-Danlos syndrome, hydroxylysine-deficient en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
42926017 Hydroxylysine-deficient collagen disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
42927014 Ehlers-Danlos syndrome, lysyl hydroxylase deficient en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
42928016 Protocollagen lysyl hydroxylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
755943014 Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
4591656015 Ehlers-Danlos syndrome type 6A en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4591660017 Ocular scoliotic EDS (Ehlers-Danlos syndrome) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ehlers-Danlos syndrome, hydroxylysine-deficient Is a Ehlers-Danlos syndrome false Inferred relationship Some
Ehlers-Danlos syndrome, hydroxylysine-deficient Finding site Bone structure false Inferred relationship Some 1
Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology Dysplasia false Inferred relationship Some 1
Ehlers-Danlos syndrome, hydroxylysine-deficient Occurrence Congenital false Inferred relationship Some
Ehlers-Danlos syndrome, hydroxylysine-deficient Finding site Connective tissue false Inferred relationship Some
Ehlers-Danlos syndrome, hydroxylysine-deficient Finding site Skin structure false Inferred relationship Some 1
Ehlers-Danlos syndrome, hydroxylysine-deficient Finding site Connective tissue structure true Inferred relationship Some 1
Ehlers-Danlos syndrome, hydroxylysine-deficient Finding site Skeletal system structure false Inferred relationship Some 1
Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology Congenital dysplasia false Inferred relationship Some 1
Ehlers-Danlos syndrome, hydroxylysine-deficient Is a Ehlers-Danlos syndrome (disorder) false Inferred relationship Some
Ehlers-Danlos syndrome, hydroxylysine-deficient Finding site Bone structure false Inferred relationship Some 1
Ehlers-Danlos syndrome, hydroxylysine-deficient Finding site Skin structure false Inferred relationship Some 1
Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology Congenital dysplasia false Inferred relationship Some 1
Ehlers-Danlos syndrome, hydroxylysine-deficient Occurrence Congenital true Inferred relationship Some 2
Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology Congenital dysplasia false Inferred relationship Some 2
Ehlers-Danlos syndrome, hydroxylysine-deficient Finding site Bone structure false Inferred relationship Some 2
Ehlers-Danlos syndrome, hydroxylysine-deficient Occurrence Congenital true Inferred relationship Some 3
Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology Congenital dysplasia false Inferred relationship Some 3
Ehlers-Danlos syndrome, hydroxylysine-deficient Finding site Skin structure false Inferred relationship Some 3
Ehlers-Danlos syndrome, hydroxylysine-deficient Finding site Skin structure true Inferred relationship Some 2
Ehlers-Danlos syndrome, hydroxylysine-deficient Finding site Bone structure true Inferred relationship Some 3
Ehlers-Danlos syndrome, hydroxylysine-deficient Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Ehlers-Danlos syndrome, hydroxylysine-deficient Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ehlers-Danlos syndrome, hydroxylysine-deficient Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology Dysplasia true Inferred relationship Some 2
Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology Dysplasia true Inferred relationship Some 3
Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Ehlers-Danlos syndrome, hydroxylysine-deficient Occurrence Congenital true Inferred relationship Some 1
Ehlers-Danlos syndrome, hydroxylysine-deficient Is a Ehlers-Danlos syndrome kyphoscoliotic type (disorder) true Inferred relationship Some
Ehlers-Danlos syndrome, hydroxylysine-deficient Occurrence Congenital true Inferred relationship Some 4
Ehlers-Danlos syndrome, hydroxylysine-deficient Finding site Musculoskeletal structure of spine true Inferred relationship Some 4
Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology Lateral abnormal curvature true Inferred relationship Some 4
Ehlers-Danlos syndrome, hydroxylysine-deficient Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Ehlers-Danlos syndrome, hydroxylysine-deficient Finding site Musculoskeletal structure of spine true Inferred relationship Some 5
Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology Anteroposterior abnormal curvature (morphologic abnormality) true Inferred relationship Some 5
Ehlers-Danlos syndrome, hydroxylysine-deficient Occurrence Congenital true Inferred relationship Some 5
Ehlers-Danlos syndrome, hydroxylysine-deficient Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Is a False Ehlers-Danlos syndrome, hydroxylysine-deficient Inferred relationship Some
Ehlers-Danlos syndrome, recessive type 4 Is a False Ehlers-Danlos syndrome, hydroxylysine-deficient Inferred relationship Some
Ehlers-Danlos syndrome, dominant type 4 Is a False Ehlers-Danlos syndrome, hydroxylysine-deficient Inferred relationship Some

This concept is not in any reference sets

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