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

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

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant 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\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\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\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\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\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of connective tissue\Metabolic disease of collagen\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Metabolic disease\Hereditary 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\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Metabolic disease\Metabolic bone disease\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Congenital disease\Congenital connective tissue disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Congenital disease\Inborn error of metabolism\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Developmental disorder\Developmental hereditary disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, procollagen proteinase deficient

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1231517017 Arthrochalasia multiplex congenita en Synonym Active Case insensitive SNOMED CT core

1231518010 Ehlers-Danlos syndrome type 7 en Synonym Active Case sensitive SNOMED CT core

794122013 Ehlers-Danlos syndrome, procollagen proteinase deficient (disorder) en Fully specified name Active Case sensitive SNOMED CT core

92630016 Ehlers-Danlos syndrome, procollagen proteinase deficient en Synonym Active Case sensitive SNOMED CT core

92631017 Ehlers-Danlos syndrome, autosomal recessive type 7 en Synonym Active Case sensitive SNOMED CT core

92632012 Procollagen peptidase deficiency en Synonym Active Case insensitive SNOMED CT core

92633019 Procollagen protease deficiency en Synonym Active Case insensitive SNOMED CT core

92634013 Arthrochalasis multiplex congenita en Synonym Active Case insensitive SNOMED CT core

92635014 Procollagen aminoprotease deficiency en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ehlers-Danlos syndrome, procollagen proteinase deficient	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome, procollagen proteinase deficient	Pathological process	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	Inherited disorder of connective tissue	false	Inferred relationship	Some
Ehlers-Danlos syndrome, procollagen proteinase deficient	Pathological process	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	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome, procollagen proteinase deficient	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Ehlers-Danlos syndrome, procollagen proteinase deficient	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, procollagen proteinase deficient	Is a	Ehlers-Danlos syndrome	true	Inferred relationship	Some
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	false	Inferred relationship	Some
Ehlers-Danlos syndrome, procollagen proteinase deficient	Is a	Ehlers-Danlos syndrome	false	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	Congenital dysplasia	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	Congenital dysplasia	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	Congenital dysplasia	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	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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1231517017	Arthrochalasia multiplex congenita	en	Synonym	Active	Case insensitive	SNOMED CT core
1231518010	Ehlers-Danlos syndrome type 7	en	Synonym	Active	Case sensitive	SNOMED CT core
794122013	Ehlers-Danlos syndrome, procollagen proteinase deficient (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
92630016	Ehlers-Danlos syndrome, procollagen proteinase deficient	en	Synonym	Active	Case sensitive	SNOMED CT core
92631017	Ehlers-Danlos syndrome, autosomal recessive type 7	en	Synonym	Active	Case sensitive	SNOMED CT core
92632012	Procollagen peptidase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
92633019	Procollagen protease deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
92634013	Arthrochalasis multiplex congenita	en	Synonym	Active	Case insensitive	SNOMED CT core
92635014	Procollagen aminoprotease deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core