398114001: Ehlers-Danlos 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 syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Ehlers-Danlos syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)

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

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

\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\...

\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)

\Disorder of skeletal system\Disorder of bone (disorder)\Ehlers-Danlos syndrome (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: IPS terminology module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ehlers-Danlos syndrome (disorder)	Is a	Congenital anomaly of skin (disorder)	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	Is a	Musculoskeletal and connective tissue disorder (disorder)	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	Is a	Hereditary disease	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	Is a	Metabolic disease of collagen	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	Is a	Disorder of bone (disorder)	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	Is a	Skin lesion	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome (disorder)	Finding site	Connective tissue structure	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

International Patient Summary

Back to Start

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