Spondyloepiphyseal dysplasia Cantu type 718765003

SNOMED CT code

SNOMED code

718765003

name

Spondyloepiphyseal dysplasia Cantu type

status

active

date introduced

2017-01-31

fully specified name(s)

Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder)

synonyms

Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
Spondyloepiphyseal dysplasia Cantu type
Tattoo dysplasia

attributes - group1

Finding site

Bone structure 272673000

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Associated morphology

Dysplasia 25723000

attributes - group2

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Face structure 89545001

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

attributes - group3

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Occurrence

Congenital 255399007

Finding site

Limb structure 66019005

attributes - group4

Interprets

Height / growth measure 271603002

parents

Autosomal dominant hereditary disorder 11164009
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Short stature disorder 237836003
Spondyloepiphyseal dysplasia congenita 278713008
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003

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
Spondyloepiphyseal dysplasia Cantu type 718765003

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of limb structure 302293008
Disorder of limb 128605003
Congenital anomaly of limb 60475009
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Spondyloepiphyseal dysplasia Cantu type 718765003

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of general physiological development 271616002
Disorder of stature 237834000
Short stature disorder 237836003
Spondyloepiphyseal dysplasia Cantu type 718765003

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Disorder of bone development 371521007
Congenital anomaly of skeletal bone 8447006
Spondyloepiphyseal dysplasia congenita 278713008
Spondyloepiphyseal dysplasia Cantu type 718765003

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Spondyloepiphyseal dysplasia Cantu type 718765003

SNOMED CT Concept 138875005
Clinical finding 404684003
Musculoskeletal finding 106028002
Disorder of musculoskeletal system 928000
Hereditary disorder of musculoskeletal system 363212003
Spondyloepiphyseal dysplasia Cantu type 718765003

ancestors

sorted most to least specific

Autosomal dominant hereditary disorder 11164009
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Short stature disorder 237836003
Spondyloepiphyseal dysplasia congenita 278713008
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Autosomal hereditary disorder 1899006
Multiple malformation syndrome with limb defect as major feature 41443008
Disorder of stature 237834000
Skeletal dysplasia 105986008
Hereditary disorder by system 363137000
Congenital anomaly of limb 60475009
Multiple malformation syndrome with facial defects as major feature 65094009
Congenital anomaly of skeletal bone 8447006
Hereditary disease 32895009
Multiple system malformation syndrome 82354003
General finding of height 248327008
Congenital anomaly of musculoskeletal system 73573004
Disorder of limb 128605003
Congenital anomaly of face 398302004
Finding of general physiological development 271616002
Disorder of bone development 371521007
Genetic disease 782964007
Congenital malformation syndrome 400038003
Height / growth finding 365714001
Finding of limb structure 302293008
Disorder of face 118930001
Congenital anomaly of head 87290003
Disorder of bone 76069003
Congenital malformation 276654001
Body measurement finding 365605003
Disorder of head 118934005
Disorder of skeletal system 88230002
Finding of face 301310005
Bone finding 118953000
Developmental disorder 5294002
Congenital disease 66091009
Disorder of musculoskeletal system 928000
Finding of head region 298364001
Head finding 406122000
Musculoskeletal finding 106028002
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

Spondyloepiphyseal dysplasia Cantu type 718765003

SNOMED CT code