Ehlers-Danlos syndrome, procollagen proteinase deficient 55711009

SNOMED CT code

SNOMED code

55711009

name

Ehlers-Danlos syndrome, procollagen proteinase deficient

status

active

date introduced

2002-01-31

fully specified name(s)

Arthrochalasia Ehlers-Danlos syndrome (disorder)

synonyms

Arthrochalasia multiplex congenita
Ehlers-Danlos syndrome type 7
Arthrochalasia Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, procollagen proteinase deficient
Procollagen peptidase deficiency
Procollagen protease deficiency
Arthrochalasis multiplex congenita
Procollagen aminoprotease deficiency

attributes - group2

Pathological process

Pathological developmental process 308490002

Associated morphology

Dysplasia 25723000

Occurrence

Congenital 255399007

Finding site

Skin structure 39937001

attributes - group1

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Connective tissue structure 21793004

attributes - group3

Associated morphology

Dysplasia 25723000

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Bone structure 272673000

parents

Autosomal dominant hereditary disorder 11164009
Ehlers-Danlos syndrome 398114001
Enzymopathy 78548001
Inborn error of metabolism 86095007

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal dominant hereditary disorder 11164009
Ehlers-Danlos syndrome, procollagen proteinase deficient 55711009

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of connective tissue 105969002
Musculoskeletal and connective tissue disorder 312225001
Ehlers-Danlos syndrome 398114001
Ehlers-Danlos syndrome, procollagen proteinase deficient 55711009

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Metabolic disease 75934005
Enzymopathy 78548001
Ehlers-Danlos syndrome, procollagen proteinase deficient 55711009

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Congenital disease 66091009
Inborn error of metabolism 86095007
Ehlers-Danlos syndrome, procollagen proteinase deficient 55711009

ancestors

sorted most to least specific

Autosomal dominant hereditary disorder 11164009
Ehlers-Danlos syndrome 398114001
Enzymopathy 78548001
Inborn error of metabolism 86095007
Autosomal hereditary disorder 1899006
Skeletal dysplasia 105986008
Hereditary metabolic disease 1821000146108
Congenital anomaly of skin 199879009
Musculoskeletal and connective tissue disorder 312225001
Congenital connective tissue disorder 363039000
Connective tissue hereditary disorder 363045008
Developmental hereditary disorder 363070008
Hereditary disorder of the integument 363185004
Hereditary disorder of musculoskeletal system 363212003
Metabolic bone disease 50279003
Metabolic disease of collagen 73873008
Congenital anomaly of skeletal bone 8447006
Skin lesion 95324001
Congenital anomaly of musculoskeletal system 73573004
Metabolic disease 75934005
Congenital anomaly of integument 38164009
Disorder of connective tissue 105969002
Hereditary disorder by system 363137000
Disorder of bone development 371521007
Soft tissue lesion 239953001
Disorder of skin 95320005
Lesion of skin and/or skin-associated mucous membrane 714974000
Hereditary disease 32895009
Congenital malformation 276654001
Skin finding 106076001
Disorder of bone 76069003
Skin or mucosa lesion 247440002
Disorder of skin and/or subcutaneous tissue 80659006
Genetic disease 782964007
Developmental disorder 5294002
Disorder of integument 128598002
Disorder of soft tissue 19660004
Disorder of skeletal system 88230002
Congenital disease 66091009
Bone finding 118953000
Skin AND/OR mucosa finding 415531008
Integumentary system finding 106077005
General finding of soft tissue 248402002
Disorder of musculoskeletal system 928000
Musculoskeletal finding 106028002
Disorder of body system 362965005
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Genetic disease 782964007

Hereditary disease 32895009

Autosomal hereditary disorder 1899006

Autosomal dominant hereditary disorder 11164009

Ehlers-Danlos syndrome, procollagen proteinase deficient 55711009

SNOMED CT code