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718211004: Ehlers-Danlos syndrome kyphoscoliotic type (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3311520017 Ehlers-Danlos syndrome kyphoscoliotic type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3311521018 Ehlers-Danlos syndrome kyphoscoliotic type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4591655016 Ehlers-Danlos syndrome type 6 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4591657012 Ehlers-Danlos syndrome type VI en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401717019 A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401718012 A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalised joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3311520017 Ehlers-Danlos syndrome kyphoscoliotic type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3311521018 Ehlers-Danlos syndrome kyphoscoliotic type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4591655016 Ehlers-Danlos syndrome type 6 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4591657012 Ehlers-Danlos syndrome type VI en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3311524014 A form of Ehlers-Danlos syndrome with characteristics of hypotonia, kyphoscoliosis at birth and joint hyperextensibility. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401717019 A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401718012 A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalised joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3409011001000119 Ehlers-Danlos-Syndrom, kyphoskoliotischer Typ de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
940281000172114 syndrome d'Ehlers-Danlos type cyphoscoliotique fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
947181000172115 EDS VIA - Ehlers-Danlos syndrome type 6A fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
940281000172114 syndrome d'Ehlers-Danlos type cyphoscoliotique fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
947181000172115 EDS VIA - Ehlers-Danlos syndrome type 6A fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3409011001000119 Ehlers-Danlos-Syndrom, kyphoskoliotischer Typ de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ehlers-Danlos syndrome kyphoscoliotic type Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic type Is a Ehlers-Danlos syndrome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic type Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome kyphoscoliotic type Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome kyphoscoliotic type Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome kyphoscoliotic type Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome kyphoscoliotic type Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome kyphoscoliotic type Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome kyphoscoliotic type Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome kyphoscoliotic type Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome kyphoscoliotic type Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome kyphoscoliotic type Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome kyphoscoliotic type Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome kyphoscoliotic type Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome kyphoscoliotic type Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome kyphoscoliotic type Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic type Is a Skeletal dysplasia false Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic type Is a Hereditary disorder of the integument (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic type Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic type Finding site Connective tissue structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome kyphoscoliotic type Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome kyphoscoliotic type Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome kyphoscoliotic type Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome kyphoscoliotic type Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome kyphoscoliotic type Is a Congenital kyphoscoliosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic type Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ehlers-Danlos syndrome kyphoscoliotic type Finding site Musculoskeletal structure of spine true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ehlers-Danlos syndrome kyphoscoliotic type Associated morphology Lateral abnormal curvature true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ehlers-Danlos syndrome kyphoscoliotic type Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ehlers-Danlos syndrome kyphoscoliotic type Finding site Musculoskeletal structure of spine true Inferred relationship Existential restriction modifier (core metadata concept) 5
Ehlers-Danlos syndrome kyphoscoliotic type Associated morphology Anteroposterior abnormal curvature true Inferred relationship Existential restriction modifier (core metadata concept) 5
Ehlers-Danlos syndrome kyphoscoliotic type Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Ehlers-Danlos syndrome kyphoscoliotic type 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
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Is a True Ehlers-Danlos syndrome kyphoscoliotic type Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a True Ehlers-Danlos syndrome kyphoscoliotic type Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Description inactivation indicator reference set

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