Autosomal dominant Robinow syndrome 890233009

SNOMED CT code

SNOMED code

890233009

name

Autosomal dominant Robinow syndrome

status

active

date introduced

2021-01-31

fully specified name(s)

Autosomal dominant Robinow syndrome (disorder)

synonyms

Autosomal dominant Robinow syndrome

attributes - group2

Associated morphology

Dysplasia 25723000

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Bone structure of extremity 48566001

attributes - group5

Occurrence

Congenital 255399007

Finding site

Face structure 89545001

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

attributes - group6

Interprets

Limb length 164835000

Has interpretation

Below reference range 281300000

attributes - group7

Occurrence

Congenital 255399007

Finding site

External genitalia structure 77142006

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

parents

Autosomal dominant hereditary disorder 11164009
Robinow syndrome 76520005

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
Autosomal dominant Robinow syndrome 890233009

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Robinow syndrome 76520005
Autosomal dominant Robinow syndrome 890233009

ancestors

sorted most to least specific

Autosomal dominant hereditary disorder 11164009
Robinow syndrome 76520005
Autosomal hereditary disorder 1899006
Congenital malformation of genital organs 204821009
Mesomelic dysplasia 205473008
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Reproductive system hereditary disorder 363290007
Disorder of pelvic region of trunk 609619005
Genitourinary congenital anomalies 287085006
Skeletal dysplasia 105986008
Multiple malformation syndrome with limb defect as major feature 41443008
Hereditary disorder by system 363137000
Disorder of reproductive system 362968007
Finding of pelvic region of trunk 609625009
Genital finding 300479008
Congenital anomaly of skeletal bone 8447006
Congenital dysplasia of limb 88631000119105
Multiple malformation syndrome with facial defects as major feature 65094009
Hereditary disease 32895009
Congenital anomaly of lower trunk 363030001
Congenital anomaly of musculoskeletal system 73573004
Multiple system malformation syndrome 82354003
Disorder of the genitourinary system 42030000
Disorder of bone development 371521007
Congenital anomaly of limb 60475009
Congenital anomaly of face 398302004
Genetic disease 782964007
Congenital abnormality of lower limb and pelvic girdle 253937004
Congenital malformation syndrome 400038003
Urogenital finding 118238000
Congenital anomaly of trunk 78626001
Disorder of abdominopelvic segment of trunk 822988000
Disorder of limb 128605003
Disorder of face 118930001
Disorder of bone 76069003
Congenital anomaly of head 87290003
Congenital malformation 276654001
Finding of abdominopelvic segment of trunk 822987005
Disorder of trunk 128121009
Finding of limb structure 302293008
Disorder of skeletal system 88230002
Disorder of head 118934005
Bone finding 118953000
Finding of face 301310005
Developmental disorder 5294002
Finding of trunk structure 302292003
Congenital disease 66091009
Disorder of musculoskeletal system 928000
Finding of head region 298364001
Musculoskeletal finding 106028002
Head finding 406122000
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

Autosomal dominant Robinow syndrome 890233009

SNOMED CT code