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25606004: Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
42925018 Ehlers-Danlos syndrome, hydroxylysine-deficient en Synonym Active Case sensitive SNOMED CT core
42926017 Hydroxylysine-deficient collagen disease en Synonym Active Case insensitive SNOMED CT core
42927014 Ehlers-Danlos syndrome, lysyl hydroxylase deficient en Synonym Active Case sensitive SNOMED CT core
42928016 Protocollagen lysyl hydroxylase deficiency en Synonym Active Case insensitive SNOMED CT core
4591656015 Ehlers-Danlos syndrome type 6A en Synonym Active Case sensitive SNOMED CT core
4591660017 Ocular scoliotic EDS (Ehlers-Danlos syndrome) en Synonym Active Initial character case insensitive SNOMED CT core
755943014 Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) en Fully specified name Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ehlers-Danlos syndrome, hydroxylysine-deficient Pathological process Pathological developmental process true Inferred relationship Some 2
Ehlers-Danlos syndrome, hydroxylysine-deficient Pathological process Pathological developmental process true Inferred relationship Some 1
Ehlers-Danlos syndrome, hydroxylysine-deficient Pathological process 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 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 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 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 true Inferred relationship Some 5
Ehlers-Danlos syndrome, hydroxylysine-deficient Occurrence Congenital true Inferred relationship Some 5
Ehlers-Danlos syndrome, hydroxylysine-deficient Pathological process Pathological developmental process true Inferred relationship Some 5
Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology Congenital dysplasia false Inferred relationship Some 1
Ehlers-Danlos syndrome, hydroxylysine-deficient Is a Ehlers-Danlos syndrome false Inferred relationship Some
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 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 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

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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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