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

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos and osteogenesis imperfecta syndrome

\Finding of movement (finding)\Finding of joint movement\Finding of range of joint movement\Range of joint movement increased (finding)\Hypermobility of joint\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Finding of movement (finding)\Movement disorder\Ehlers-Danlos and osteogenesis imperfecta syndrome

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos and osteogenesis imperfecta syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos and osteogenesis imperfecta syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos and osteogenesis imperfecta syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos and osteogenesis imperfecta syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos and osteogenesis imperfecta syndrome

\Procedure related finding\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density below reference range\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Procedure related finding\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome

\Functional finding\Abnormal bone formation\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos and osteogenesis imperfecta syndrome

\Musculoskeletal finding\Bone finding\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Musculoskeletal finding\Bone finding\Abnormal bone formation\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Musculoskeletal finding\Joint finding\Hypermobility of joint\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome

\Disease\Disorder of joint region\Arthropathy (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Genetic disease\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital connective tissue disorder\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Movement disorder\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos and osteogenesis imperfecta syndrome

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

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

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	Some
Ehlers-Danlos and osteogenesis imperfecta syndrome	Is a	Osteogenesis imperfecta	true	Inferred relationship	Some
Ehlers-Danlos and osteogenesis imperfecta syndrome	Is a	Ehlers-Danlos syndrome (disorder)	false	Inferred relationship	Some
Ehlers-Danlos and osteogenesis imperfecta syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Ehlers-Danlos and osteogenesis imperfecta syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Ehlers-Danlos and osteogenesis imperfecta syndrome	Finding site	Bone structure	false	Inferred relationship	Some	3
Ehlers-Danlos and osteogenesis imperfecta syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Ehlers-Danlos and osteogenesis imperfecta syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Ehlers-Danlos and osteogenesis imperfecta syndrome	Finding site	Skin structure	false	Inferred relationship	Some	4
Ehlers-Danlos and osteogenesis imperfecta syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Ehlers-Danlos and osteogenesis imperfecta syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ehlers-Danlos and osteogenesis imperfecta syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Ehlers-Danlos and osteogenesis imperfecta syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Ehlers-Danlos and osteogenesis imperfecta syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Ehlers-Danlos and osteogenesis imperfecta syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Ehlers-Danlos and osteogenesis imperfecta syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Ehlers-Danlos and osteogenesis imperfecta syndrome	Finding site	Bone structure	false	Inferred relationship	Some	2
Ehlers-Danlos and osteogenesis imperfecta syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Ehlers-Danlos and osteogenesis imperfecta syndrome	Finding site	Skin structure	true	Inferred relationship	Some	2
Ehlers-Danlos and osteogenesis imperfecta syndrome	Is a	Connective tissue hereditary disorder (disorder)	true	Inferred relationship	Some
Ehlers-Danlos and osteogenesis imperfecta syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Ehlers-Danlos and osteogenesis imperfecta syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Ehlers-Danlos and osteogenesis imperfecta syndrome	Finding site	Connective tissue structure	true	Inferred relationship	Some	4
Ehlers-Danlos and osteogenesis imperfecta syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Ehlers-Danlos and osteogenesis imperfecta syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Ehlers-Danlos and osteogenesis imperfecta syndrome	Interprets	Bone formation	true	Inferred relationship	Some	3
Ehlers-Danlos and osteogenesis imperfecta syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	3
Ehlers-Danlos and osteogenesis imperfecta syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	4
Ehlers-Danlos and osteogenesis imperfecta syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Ehlers-Danlos and osteogenesis imperfecta syndrome	Is a	Congenital anomaly of skin	true	Inferred relationship	Some
Ehlers-Danlos and osteogenesis imperfecta syndrome	Is a	Dysplasia with decreased bone density	true	Inferred relationship	Some
Ehlers-Danlos and osteogenesis imperfecta syndrome	Is a	Musculoskeletal and connective tissue disorder (disorder)	true	Inferred relationship	Some
Ehlers-Danlos and osteogenesis imperfecta syndrome	Is a	Congenital connective tissue disorder	true	Inferred relationship	Some
Ehlers-Danlos and osteogenesis imperfecta syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Ehlers-Danlos and osteogenesis imperfecta syndrome	Is a	Movement disorder	true	Inferred relationship	Some
Ehlers-Danlos and osteogenesis imperfecta syndrome	Is a	Skin lesion	true	Inferred relationship	Some
Ehlers-Danlos and osteogenesis imperfecta syndrome	Interprets	Bone density scan	true	Inferred relationship	Some	6
Ehlers-Danlos and osteogenesis imperfecta syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	6
Ehlers-Danlos and osteogenesis imperfecta syndrome	Interprets	Range of joint movement	true	Inferred relationship	Some	7
Ehlers-Danlos and osteogenesis imperfecta syndrome	Has interpretation	Above reference range	true	Inferred relationship	Some	7
Ehlers-Danlos and osteogenesis imperfecta syndrome	Is a	Arthropathy (disorder)	true	Inferred relationship	Some
Ehlers-Danlos and osteogenesis imperfecta syndrome	Is a	Hypermobility of joint	true	Inferred relationship	Some
Ehlers-Danlos and osteogenesis imperfecta syndrome	Finding site	Joint structure	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
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