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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
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 Only initial character case insensitive (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 Only initial character case insensitive (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
483004014 Ehlers-Danlos syndrome type VI en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
755943014 Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) en Fully specified name Active Only initial character 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
1785004013 Kyphoscoliosis type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1785004013 Kyphoscoliosis type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1785005014 Ehlers-Danlos syndrome Type VI - ocular (recessive) en Synonym (core metadata concept) 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
3450381001000111 Kyphoskoliotisches Ehlers-Danlos-Syndrom durch Lysyl-Hydroxylase 1-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4472781000241115 syndrome d'Ehlers-Danlos de type cyphoscoliotique par déficit en lysyl hydroxylase 1 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4472781000241115 syndrome d'Ehlers-Danlos de type cyphoscoliotique par déficit en lysyl hydroxylase 1 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3450381001000111 Kyphoskoliotisches Ehlers-Danlos-Syndrom durch Lysyl-Hydroxylase 1-Mangel 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
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Is a Ehlers-Danlos syndrome false Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Associated morphology Dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Finding site Connective tissue false Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Finding site Connective tissue structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Finding site Skeletal system structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Is a Ehlers-Danlos syndrome (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Is a Ehlers-Danlos syndrome kyphoscoliotic type true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Finding site Musculoskeletal structure of spine true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Associated morphology Lateral abnormal curvature true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Finding site Musculoskeletal structure of spine true Inferred relationship Existential restriction modifier (core metadata concept) 5
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Associated morphology Anteroposterior abnormal curvature true Inferred relationship Existential restriction modifier (core metadata concept) 5
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 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 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome, recessive type 4 Is a False Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome, dominant type 4 Is a False Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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