Classical-like Ehlers-Danlos syndrome type 1 778022009

SNOMED CT code

SNOMED code

778022009

name

Classical-like Ehlers-Danlos syndrome type 1

status

active

date introduced

2019-01-31

fully specified name(s)

Classical-like Ehlers-Danlos syndrome type 1 (disorder)

synonyms

Ehlers-Danlos syndrome due to tenascin-X deficiency
Ehlers-Danlos syndrome classic-like type
Classical-like Ehlers-Danlos syndrome type 1

attributes - group2

Pathological process

Pathological developmental process 308490002

Associated morphology

Dysplasia 25723000

Occurrence

Congenital 255399007

Finding site

Skin structure 39937001

attributes - group1

Finding site

Bone structure 272673000

Pathological process

Pathological developmental process 308490002

Associated morphology

Dysplasia 25723000

Occurrence

Congenital 255399007

attributes - group3

Finding site

Connective tissue structure 21793004

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Occurrence

Congenital 255399007

parents

Ehlers-Danlos syndrome 398114001
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of connective tissue 105969002
Musculoskeletal and connective tissue disorder 312225001
Ehlers-Danlos syndrome 398114001
Classical-like Ehlers-Danlos syndrome type 1 778022009

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Classical-like Ehlers-Danlos syndrome type 1 778022009

ancestors

sorted most to least specific

Ehlers-Danlos syndrome 398114001
Autosomal recessive hereditary disorder 85995004
Skeletal dysplasia 105986008
Autosomal hereditary disorder 1899006
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
Congenital anomaly of integument 38164009
Disorder of connective tissue 105969002
Hereditary disorder by system 363137000
Metabolic disease 75934005
Disorder of bone development 371521007
Soft tissue lesion 239953001
Disorder of skin 95320005
Lesion of skin and/or skin-associated mucous membrane 714974000
Congenital malformation 276654001
Hereditary disease 32895009
Skin finding 106076001
Disorder of bone 76069003
Skin or mucosa lesion 247440002
Disorder of skin and/or subcutaneous tissue 80659006
Developmental disorder 5294002
Genetic disease 782964007
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

Disorder of connective tissue 105969002

Musculoskeletal and connective tissue disorder 312225001

Ehlers-Danlos syndrome 398114001

Classical-like Ehlers-Danlos syndrome type 1 778022009

SNOMED CT code