398114001: Ehlers-Danlos syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ehlers-Danlos syndrome
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder\Ehlers-Danlos syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome
\Disease\Disorder of connective tissue\Connective tissue hereditary disorder\Ehlers-Danlos syndrome
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Ehlers-Danlos syndrome
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome
\Disease\Disorder of connective tissue\Metabolic disease of collagen\Ehlers-Danlos syndrome
\Disease\Metabolic disease\Metabolic disease of collagen\Ehlers-Danlos syndrome
\Disease\Metabolic disease\Metabolic bone disease\Ehlers-Danlos syndrome
\Disease\Congenital disease\Congenital connective tissue disorder\Ehlers-Danlos syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Ehlers-Danlos syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2003. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

1766033012 Ehlers-Danlos syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
1777678019 Ehlers-Danlos syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
1786113017 Cutis hyperelastica dermatorrhexis en Synonym Active Entire term case insensitive SNOMED CT core module
1786114011 Dystrophia mesodermalis congenita en Synonym Active Entire term case insensitive SNOMED CT core module
1786115012 India rubber skin en Synonym Active Entire term case sensitive SNOMED CT core module
1786116013 Dermatorrhexis with dermatochalasis AND arthrochalasis en Synonym Active Only initial character case insensitive SNOMED CT core module
1786117016 Hereditary collagen dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module
1786118014 Meekeren-Ehlers-Danlos syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
1786119018 Cutis elastica en Synonym Active Entire term case insensitive SNOMED CT core module
1786120012 Cutis hyperelastica en Synonym Active Entire term case insensitive SNOMED CT core module
1786121011 Danlos disease en Synonym Active Entire term case sensitive SNOMED CT core module
1786122016 Fibrodysplasia elastica generalisata en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ehlers-Danlos syndrome	Is a	Congenital anomaly of skin	true	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome	Is a	Skin lesion	true	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome	Is a	Metabolic bone disease	true	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome	Is a	Metabolic disease of collagen	true	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Ehlers-Danlos syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Ehlers-Danlos syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Ehlers-Danlos syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome	Finding site	Connective tissue structure	true	Inferred relationship	Existential restriction modifier	3
Ehlers-Danlos syndrome	Is a	Connective tissue hereditary disorder	true	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Ehlers-Danlos syndrome	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	1
Ehlers-Danlos syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Ehlers-Danlos syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Ehlers-Danlos syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Ehlers-Danlos syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Ehlers-Danlos syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Ehlers-Danlos syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	2
Ehlers-Danlos syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	3
Ehlers-Danlos syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Ehlers-Danlos syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Ehlers-Danlos syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Ehlers-Danlos syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Ehlers-Danlos syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Ehlers-Danlos syndrome	Is a	Musculoskeletal and connective tissue disorder	true	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Ehlers-Danlos syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Ehlers-Danlos syndrome	Is a	Congenital connective tissue disorder	true	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Is a	True	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome, type 4	Is a	True	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome, type 2	Is a	False	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome, hydroxylysine-deficient	Is a	False	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Hypermobile Ehlers-Danlos syndrome	Is a	True	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome, procollagen proteinase resistant	Is a	True	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome, type 8	Is a	True	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome, procollagen proteinase deficient	Is a	True	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Cutis laxa, x-linked	Is a	False	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome, type 5	Is a	True	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome, familial joint laxity type	Is a	True	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome, type 1	Is a	False	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome, dysfibronectinemic	Is a	True	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome classic type	Is a	True	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome kyphoscoliotic type	Is a	True	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Brittle cornea syndrome	Is a	True	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome with periventricular heterotopia	Is a	False	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome cardiac valvular type	Is a	True	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome kyphoscoliotic and deafness type	Is a	False	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome musculocontractural type	Is a	True	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome vascular-like type	Is a	False	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome progeroid type	Is a	False	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Ehlers-Danlos and osteogenesis imperfecta syndrome	Is a	True	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome spondylocheirodysplastic type	Is a	False	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome due to tenascin-X deficiency	Is a	True	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Dermatosparaxis Ehlers-Danlos syndrome	Is a	True	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Spondylodysplastic Ehlers-Danlos syndrome	Is a	True	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Myopathic Ehlers-Danlos syndrome	Is a	True	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier
Classical-like Ehlers-Danlos syndrome type 2	Is a	True	Ehlers-Danlos syndrome	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1766033012	Ehlers-Danlos syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
1777678019	Ehlers-Danlos syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
1786113017	Cutis hyperelastica dermatorrhexis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1786114011	Dystrophia mesodermalis congenita	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1786115012	India rubber skin	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
1786116013	Dermatorrhexis with dermatochalasis AND arthrochalasis	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
1786117016	Hereditary collagen dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1786118014	Meekeren-Ehlers-Danlos syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
1786119018	Cutis elastica	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1786120012	Cutis hyperelastica	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1786121011	Danlos disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
1786122016	Fibrodysplasia elastica generalisata	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module