X-linked lethal multiple pterygium syndrome 763462004

SNOMED CT code

SNOMED code

763462004

name

X-linked lethal multiple pterygium syndrome

status

active

date introduced

2018-07-31

fully specified name(s)

X-linked lethal multiple pterygium syndrome (disorder)

synonyms

X-linked lethal multiple pterygium syndrome

attributes - group1

Pathological process

Pathological developmental process 308490002

Finding site

Structure of joint region 785818007

Occurrence

Congenital 255399007

Associated morphology

Contracture 57048009

attributes - group2

Has interpretation

Decreased 1250004

Interprets

Range of joint movement 364564000

attributes - group3

Pathological process

Pathological developmental process 308490002

Associated morphology

Congenital webbing 76640006

Finding site

Skin structure 39937001

Occurrence

Congenital 255399007

parents

X-linked hereditary disease 128430005
Multiple pterygium syndrome 205819008
Inherited arthrogryposis 28204005
Multiple malformation syndrome with limb defect as major feature 41443008

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Sex-linked hereditary disorder 82852009
X-linked hereditary disease 128430005
X-linked lethal multiple pterygium syndrome 763462004

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of movement 298325004
Movement disorder 60342002
Multiple pterygium syndrome 205819008
X-linked lethal multiple pterygium syndrome 763462004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Inherited arthrogryposis 28204005
X-linked lethal multiple pterygium syndrome 763462004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Congenital malformation 276654001
Congenital malformation syndrome 400038003
Multiple system malformation syndrome 82354003
Multiple malformation syndrome with limb defect as major feature 41443008
X-linked lethal multiple pterygium syndrome 763462004

ancestors

sorted most to least specific

X-linked hereditary disease 128430005
Multiple pterygium syndrome 205819008
Inherited arthrogryposis 28204005
Multiple malformation syndrome with limb defect as major feature 41443008
Sex-linked hereditary disorder 82852009
Congenital anomaly of skin 199879009
Arthrogryposis 111246005
Multiple system malformation syndrome 82354003
Akinesia 33994004
Developmental hereditary disorder 363070008
Hereditary disorder of the integument 363185004
Skin lesion 95324001
Congenital anomaly of integument 38164009
Contracture of multiple joints 202264009
Congenital malformation syndrome 400038003
Motor dysfunction 52559000
Soft tissue lesion 239953001
Disorder of skin 95320005
Congenital deformity 276655000
Hereditary disorder by system 363137000
Lesion of skin and/or skin-associated mucous membrane 714974000
Hereditary disease 32895009
Contracture of joint 7890003
Congenital malformation 276654001
Motor nervous system finding 106145009
Skin finding 106076001
Skin or mucosa lesion 247440002
Disorder of skin and/or subcutaneous tissue 80659006
Genetic disease 782964007
Disorder of integument 128598002
Deformity 417893002
Developmental disorder 5294002
Neurological finding 102957003
Movement disorder 60342002
Disorder of soft tissue 19660004
Limitation of joint movement 70733008
Disorder of joint region 785875003
Congenital disease 66091009
Skin AND/OR mucosa finding 415531008
Integumentary system finding 106077005
General finding of soft tissue 248402002
Disorder of body system 362965005
Finding of range of joint movement 298180004
Disease 64572001
Finding of joint movement 298179002
Finding of movement 298325004
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

Sex-linked hereditary disorder 82852009

X-linked hereditary disease 128430005

X-linked lethal multiple pterygium syndrome 763462004

SNOMED CT code