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778022009: Classical-like Ehlers-Danlos syndrome type 1 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3737231017 Ehlers-Danlos syndrome due to tenascin-X deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3737233019 Ehlers-Danlos syndrome classic-like type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5250201010 Classical-like Ehlers-Danlos syndrome type 1 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5250233018 Classical-like Ehlers-Danlos syndrome type 1 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3737236010 A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3737237018 A type of Ehlers-Danlos syndrome characterised by generalised joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3737231017 Ehlers-Danlos syndrome due to tenascin-X deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3737232012 Ehlers-Danlos syndrome due to tenascin-X deficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3737233019 Ehlers-Danlos syndrome classic-like type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5250201010 Classical-like Ehlers-Danlos syndrome type 1 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5250233018 Classical-like Ehlers-Danlos syndrome type 1 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3737236010 A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3737237018 A type of Ehlers-Danlos syndrome characterised by generalised joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3395011001000112 Ehlers-Danlos-Syndrom, klassisch-ähnlicher Typ 1 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
993081000172117 EDS type classic-like fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1007891000172111 syndrome d'Ehlers-Danlos par déficit en tenascin-X fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
993081000172117 EDS type classic-like fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1007891000172111 syndrome d'Ehlers-Danlos par déficit en tenascin-X fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3395011001000112 Ehlers-Danlos-Syndrom, klassisch-ähnlicher Typ 1 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 due to tenascin-X deficiency Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome due to tenascin-X deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome due to tenascin-X deficiency Is a Hereditary disorder of the integument (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome due to tenascin-X deficiency Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome due to tenascin-X deficiency Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome due to tenascin-X deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome due to tenascin-X deficiency Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome due to tenascin-X deficiency Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome due to tenascin-X deficiency Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome due to tenascin-X deficiency Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome due to tenascin-X deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome due to tenascin-X deficiency Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome due to tenascin-X deficiency Is a Ehlers-Danlos syndrome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome due to tenascin-X deficiency Finding site Connective tissue structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome due to tenascin-X deficiency Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome due to tenascin-X deficiency Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome due to tenascin-X deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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