Stickler syndrome type 2 1010664005

SNOMED CT code

SNOMED code

1010664005

name

Stickler syndrome type 2

status

active

date introduced

2021-01-31

fully specified name(s)

Stickler syndrome type 2 (disorder)

synonyms

Stickler syndrome type 2

attributes - group1

Finding site

Joint structure 39352004

Occurrence

Congenital 255399007

Associated morphology

Degenerative abnormality 107669003

Pathological process

Pathological developmental process 308490002

attributes - group2

Associated morphology

Dysplasia 25723000

Finding site

Bone structure 272673000

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

attributes - group3

Occurrence

Congenital 255399007

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Vitreous body structure 47538007

Pathological process

Pathological developmental process 308490002

attributes - group4

Finding site

Retinal structure 5665001

Associated morphology

Morphologically abnormal structure 49755003

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

parents

Autosomal dominant hereditary disorder 11164009
Stickler syndrome 78675000

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
Stickler syndrome type 2 1010664005

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of connective tissue 105969002
Musculoskeletal and connective tissue disorder 312225001
Stickler syndrome 78675000
Stickler syndrome type 2 1010664005

ancestors

sorted most to least specific

Autosomal dominant hereditary disorder 11164009
Stickler syndrome 78675000
Autosomal hereditary disorder 1899006
Skeletal dysplasia 105986008
Hereditary vitreoretinopathy 232062002
Congenital anomaly of bone and joint 237513002
Congenital malformation of vitreous humor 253236002
Musculoskeletal and connective tissue disorder 312225001
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Osteoarthritis 396275006
Congenital anomaly of retina 49381001
Multiple system malformation syndrome 82354003
Retinal disorder 29555009
Congenital anomaly of skeletal bone 8447006
Congenital anomaly of ocular adnexa 128327004
Degenerative disorder of musculoskeletal system 363059001
Congenital anomaly of posterior segment of eye 128534003
Congenital malformation syndrome 400038003
Connective tissue hereditary disorder 363045008
Hereditary disorder of the visual system 363343008
Disorder of vitreous body 76682005
Congenital anomaly of joint 95463009
Congenital connective tissue disorder 363039000
Congenital anomaly of orbit 54873004
Congenital anomaly of musculoskeletal system 73573004
Disorder of bone development 371521007
Disorder of ocular adnexa 118941004
Disorder of connective tissue 105969002
Hereditary disorder by system 363137000
Degenerative disorder 362975008
Retina finding 399858007
Arthropathy 399269003
Congenital anomaly of eye 19416009
Disorder of soft tissue of head 280131007
Disorder of orbit proper 371436007
Disorder of vitreous cavity 418842009
Hereditary disease 32895009
Disorder of vitreous body and retina 312771007
Joint finding 118952005
Disorder of bone 76069003
Congenital anomaly of visual system 127329003
Congenital anomaly of head 87290003
Anomaly of eye 11131000119108
Orbit finding 246912006
Vitreous cavity finding 247078006
Disorder of joint region 785875003
Disorder of soft tissue 19660004
Genetic disease 782964007
Congenital malformation 276654001
Disorder of posterior segment of eye 128536001
Disorder of skeletal system 88230002
Bone finding 118953000
General finding of soft tissue 248402002
Developmental disorder 5294002
Disorder of eye 371405004
Disorder of musculoskeletal system 928000
Congenital disease 66091009
Disorder of sensory organ 1279550006
Disorder of eye region 371409005
Musculoskeletal finding 106028002
Globe finding 246915008
Disorder of head 118934005
Visual system disorder 128127008
Finding of head region 298364001
Head finding 406122000
Eye / vision finding 118235002
Disorder of body system 362965005
Disease 64572001
Finding of head and neck region 118254002
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

Stickler syndrome type 2 1010664005

SNOMED CT code