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733457006: Ehlers-Danlos and osteogenesis imperfecta syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3499471011 Ehlers-Danlos and osteogenesis imperfecta syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3499472016 Ehlers-Danlos and osteogenesis imperfecta syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403791012 A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403792017 A rare systemic disease characterised by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalised joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3499471011 Ehlers-Danlos and osteogenesis imperfecta syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3499472016 Ehlers-Danlos and osteogenesis imperfecta syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3500005011 An association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3500006012 An association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterised by generalised joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403791012 A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403792017 A rare systemic disease characterised by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalised joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3383091001000117 Ehlers-Danlos/Osteogenesis imperfecta-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
895111000172117 syndrome EDS/OI (Ehlers-Danlos/ostéogenèse imparfaite) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
923871000172116 syndrome d'Ehlers-Danlos/ostéogenèse imparfaite fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
895111000172117 syndrome EDS/OI (Ehlers-Danlos/ostéogenèse imparfaite) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
923871000172116 syndrome d'Ehlers-Danlos/ostéogenèse imparfaite fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3383091001000117 Ehlers-Danlos/Osteogenesis imperfecta-Syndrom 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 and osteogenesis imperfecta syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a Osteogenesis imperfecta true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a Ehlers-Danlos syndrome (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos and osteogenesis imperfecta syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos and osteogenesis imperfecta syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos and osteogenesis imperfecta syndrome Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos and osteogenesis imperfecta syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Ehlers-Danlos and osteogenesis imperfecta syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ehlers-Danlos and osteogenesis imperfecta syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Ehlers-Danlos and osteogenesis imperfecta syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos and osteogenesis imperfecta syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos and osteogenesis imperfecta syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos and osteogenesis imperfecta syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos and osteogenesis imperfecta syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos and osteogenesis imperfecta syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos and osteogenesis imperfecta syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos and osteogenesis imperfecta syndrome Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos and osteogenesis imperfecta syndrome Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos and osteogenesis imperfecta syndrome Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a Connective tissue hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos and osteogenesis imperfecta syndrome Finding site Connective tissue structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ehlers-Danlos and osteogenesis imperfecta syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos and osteogenesis imperfecta syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos and osteogenesis imperfecta syndrome Interprets Bone formation true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos and osteogenesis imperfecta syndrome Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos and osteogenesis imperfecta syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ehlers-Danlos and osteogenesis imperfecta syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a Congenital anomaly of skin (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a Dysplasia with decreased bone density true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a Musculoskeletal and connective tissue disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a Congenital connective tissue disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a Movement disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a Skin lesion true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos and osteogenesis imperfecta syndrome Interprets Bone density scan true Inferred relationship Existential restriction modifier (core metadata concept) 6
Ehlers-Danlos and osteogenesis imperfecta syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 6
Ehlers-Danlos and osteogenesis imperfecta syndrome Interprets Range of joint movement true Inferred relationship Existential restriction modifier (core metadata concept) 7
Ehlers-Danlos and osteogenesis imperfecta syndrome Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 7
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a Arthropathy true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a Hypermobility of joint true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos and osteogenesis imperfecta syndrome Finding site Joint structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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