Ehlers-Danlos syndrome musculocontractural type 720860004

SNOMED CT code

SNOMED code

720860004

name

Ehlers-Danlos syndrome musculocontractural type

status

active

date introduced

2017-01-31

fully specified name(s)

Ehlers-Danlos syndrome musculocontractural type (disorder)

synonyms

Ehlers-Danlos syndrome musculocontractural type
Ehlers-Danlos syndrome Kosho type
Adducted thumbs, arthrogryposis syndrome, Dundar type
Ehlers-Danlos syndrome arthrogryposic type

attributes - group3

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Face structure 89545001

Associated morphology

Morphologically abnormal structure 49755003

attributes - group2

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Skin structure 39937001

Associated morphology

Dysplasia 25723000

attributes - group4

Pathological process

Pathological developmental process 308490002

Finding site

Structure of joint region 785818007

Occurrence

Congenital 255399007

Associated morphology

Contracture 57048009

attributes - group1

Finding site

Bone structure 272673000

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Associated morphology

Dysplasia 25723000

attributes - group6

Finding site

Connective tissue structure 21793004

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

attributes - group5

Interprets

Range of joint movement 364564000

Has interpretation

Decreased 1250004

parents

Distal arthrogryposis syndrome 24269006
Inherited arthrogryposis 28204005
Ehlers-Danlos syndrome 398114001
Multiple malformation syndrome with facial defects as major feature 65094009
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Deformity 417893002
Congenital deformity 276655000
Arthrogryposis 111246005
Distal arthrogryposis syndrome 24269006
Ehlers-Danlos syndrome musculocontractural type 720860004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Inherited arthrogryposis 28204005
Ehlers-Danlos syndrome musculocontractural type 720860004

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 musculocontractural type 720860004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of head 118934005
Disorder of face 118930001
Congenital anomaly of face 398302004
Multiple malformation syndrome with facial defects as major feature 65094009
Ehlers-Danlos syndrome musculocontractural type 720860004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Ehlers-Danlos syndrome musculocontractural type 720860004

ancestors

sorted most to least specific

Distal arthrogryposis syndrome 24269006
Inherited arthrogryposis 28204005
Ehlers-Danlos syndrome 398114001
Multiple malformation syndrome with facial defects as major feature 65094009
Autosomal recessive hereditary disorder 85995004
Arthrogryposis 111246005
Skeletal dysplasia 105986008
Congenital anomaly of face 398302004
Autosomal hereditary disorder 1899006
Developmental hereditary disorder 363070008
Congenital anomaly of skin 199879009
Musculoskeletal and connective tissue disorder 312225001
Congenital connective tissue disorder 363039000
Connective tissue hereditary disorder 363045008
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
Multiple system malformation syndrome 82354003
Contracture of multiple joints 202264009
Congenital anomaly of musculoskeletal system 73573004
Disorder of face 118930001
Congenital deformity 276655000
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
Congenital malformation syndrome 400038003
Congenital anomaly of head 87290003
Disorder of skin 95320005
Lesion of skin and/or skin-associated mucous membrane 714974000
Contracture of joint 7890003
Congenital malformation 276654001
Disorder of head 118934005
Hereditary disease 32895009
Finding of face 301310005
Skin finding 106076001
Disorder of bone 76069003
Skin or mucosa lesion 247440002
Disorder of skin and/or subcutaneous tissue 80659006
Deformity 417893002
Developmental disorder 5294002
Genetic disease 782964007
Movement disorder 60342002
Limitation of joint movement 70733008
Disorder of joint region 785875003
Disorder of integument 128598002
Disorder of soft tissue 19660004
Disorder of skeletal system 88230002
Congenital disease 66091009
Finding of head region 298364001
Bone finding 118953000
Skin AND/OR mucosa finding 415531008
Head finding 406122000
Finding of range of joint movement 298180004
Integumentary system finding 106077005
General finding of soft tissue 248402002
Disorder of musculoskeletal system 928000
Finding of head and neck region 118254002
Finding of joint movement 298179002
Musculoskeletal finding 106028002
Disorder of body system 362965005
Disease 64572001
Finding of movement 298325004
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Deformity 417893002

Congenital deformity 276655000

Arthrogryposis 111246005

Distal arthrogryposis syndrome 24269006

Ehlers-Danlos syndrome musculocontractural type 720860004

SNOMED CT code