55711009: Ehlers-Danlos syndrome, procollagen proteinase deficient (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)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\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 syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\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 syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient

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

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Genetic disease\Hereditary disease\Inborn error of metabolism\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\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 syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\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)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\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\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of connective tissue (disorder)\Metabolic disease of collagen\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Metabolic disease\Inborn error of metabolism\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Metabolic disease\Enzymopathy\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Metabolic disease\Metabolic disease of collagen\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Metabolic disease\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Congenital disease (disorder)\Congenital connective tissue disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Developmental disorder\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, procollagen proteinase deficient

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ehlers-Danlos syndrome, procollagen proteinase deficient	Is a	Enzymopathy	true	Inferred relationship	Some
Ehlers-Danlos syndrome, procollagen proteinase deficient	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Ehlers-Danlos syndrome, procollagen proteinase deficient	Is a	Ehlers-Danlos syndrome	false	Inferred relationship	Some
Ehlers-Danlos syndrome, procollagen proteinase deficient	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, procollagen proteinase deficient	Finding site	Connective tissue	false	Inferred relationship	Some
Ehlers-Danlos syndrome, procollagen proteinase deficient	Finding site	Connective tissue structure	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome, procollagen proteinase deficient	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, procollagen proteinase deficient	Finding site	Skin structure	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, procollagen proteinase deficient	Finding site	Bone structure	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, procollagen proteinase deficient	Occurrence	Congenital	false	Inferred relationship	Some
Ehlers-Danlos syndrome, procollagen proteinase deficient	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, procollagen proteinase deficient	Is a	Ehlers-Danlos syndrome (disorder)	true	Inferred relationship	Some
Ehlers-Danlos syndrome, procollagen proteinase deficient	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Ehlers-Danlos syndrome, procollagen proteinase deficient	Finding site	Bone structure	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, procollagen proteinase deficient	Finding site	Skin structure	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, procollagen proteinase deficient	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, procollagen proteinase deficient	Occurrence	Congenital	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome, procollagen proteinase deficient	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Ehlers-Danlos syndrome, procollagen proteinase deficient	Finding site	Bone structure	false	Inferred relationship	Some	2
Ehlers-Danlos syndrome, procollagen proteinase deficient	Occurrence	Congenital	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome, procollagen proteinase deficient	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	3
Ehlers-Danlos syndrome, procollagen proteinase deficient	Finding site	Skin structure	false	Inferred relationship	Some	3
Ehlers-Danlos syndrome, procollagen proteinase deficient	Finding site	Skin structure	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome, procollagen proteinase deficient	Finding site	Bone structure	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome, procollagen proteinase deficient	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome, procollagen proteinase deficient	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome, procollagen proteinase deficient	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Ehlers-Danlos syndrome, procollagen proteinase deficient	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome, procollagen proteinase deficient	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Ehlers-Danlos syndrome, procollagen proteinase deficient	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome, procollagen proteinase deficient	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome, procollagen proteinase deficient	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Ehlers-Danlos syndrome, procollagen proteinase deficient	Occurrence	Congenital	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome, procollagen proteinase deficient	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1

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
92630016	Ehlers-Danlos syndrome, procollagen proteinase deficient	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
92631017	Ehlers-Danlos syndrome, autosomal recessive type 7	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
92632012	Procollagen peptidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
92633019	Procollagen protease deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
92634013	Arthrochalasis multiplex congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
92635014	Procollagen aminoprotease deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
794122013	Ehlers-Danlos syndrome, procollagen proteinase deficient (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1231516014	Dermatosparaxis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1231517017	Arthrochalasia multiplex congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1231518010	Ehlers-Danlos syndrome type 7	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
791011000052113	Ehlers-Danlos syndrom, brist på prokollagenproteinas	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)