Spondylometaphyseal dysplasia, corneal dystrophy syndrome 1269226006

SNOMED CT code

SNOMED code

1269226006

name

Spondylometaphyseal dysplasia, corneal dystrophy syndrome

status

active

date introduced

2023-04-30

fully specified name(s)

Spondylometaphyseal dysplasia, corneal dystrophy syndrome (disorder)

synonyms

Spondylometaphyseal dysplasia, corneal dystrophy syndrome

attributes - group5

Interprets

Intellectual ability 247573007

Has interpretation

Impaired 260379002

attributes - group6

Interprets

Adaptation behavior 406208005

Has interpretation

Impaired 260379002

attributes - group1

Occurrence

Congenital 255399007

Finding site

Skeletal system structure 113192009

Associated morphology

Dysplasia 25723000

Pathological process

Pathological developmental process 308490002

attributes - group3

Occurrence

Congenital 255399007

Finding site

Limb structure 66019005

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

attributes - group4

Occurrence

Congenital 255399007

Finding site

Face structure 89545001

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

attributes - group2

Finding site

Corneal structure 28726007

Associated morphology

Dystrophy 4720007

parents

Intellectual disability 110359009
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Hereditary corneal dystrophy 77797009
Spondylometaphyseal dysplasia 784006008
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Mental state, behavior and/or psychosocial function finding 384821006
Behavior finding 844005
Intellectual disability 110359009
Spondylometaphyseal dysplasia, corneal dystrophy syndrome 1269226006

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
Spondylometaphyseal dysplasia, corneal dystrophy syndrome 1269226006

SNOMED CT Concept 138875005
Clinical finding 404684003
Eye / vision finding 118235002
Visual system disorder 128127008
Hereditary disorder of the visual system 363343008
Hereditary corneal dystrophy 77797009
Spondylometaphyseal dysplasia, corneal dystrophy syndrome 1269226006

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Spondylometaphyseal dysplasia 784006008
Spondylometaphyseal dysplasia, corneal dystrophy syndrome 1269226006

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Spondylometaphyseal dysplasia, corneal dystrophy syndrome 1269226006

ancestors

sorted most to least specific

Intellectual disability 110359009
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Hereditary corneal dystrophy 77797009
Spondylometaphyseal dysplasia 784006008
Autosomal recessive hereditary disorder 85995004
Intellectual ability - finding 365814006
Multiple malformation syndrome with limb defect as major feature 41443008
Hereditary disorder of the visual system 363343008
Skeletal dysplasia 105986008
Autosomal hereditary disorder 1899006
Impaired cognition 386806002
Neurodevelopmental disorder 700364009
Behavior finding 844005
Congenital anomaly of limb 60475009
Multiple malformation syndrome with facial defects as major feature 65094009
Corneal dystrophy 5587004
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Intelligence finding 106137004
Multiple system malformation syndrome 82354003
Congenital anomaly of musculoskeletal system 73573004
Cognitive function finding 373930000
Mental state, behavior and/or psychosocial function finding 384821006
Disorder of limb 128605003
Congenital anomaly of face 398302004
Corneal degeneration 111521006
Hereditary disorder by system 363137000
Disorder of skeletal system 88230002
Functional finding 118228005
Congenital malformation syndrome 400038003
Hereditary disease 32895009
Finding of limb structure 302293008
Disorder of face 118930001
Disorder of cornea 15250008
Disorder of musculoskeletal system 928000
Congenital anomaly of head 87290003
Degenerative disorder of eye 62585004
Congenital malformation 276654001
Genetic disease 782964007
Disorder of anterior segment of eye 128535002
Musculoskeletal finding 106028002
Finding of face 301310005
Anomaly of eye 11131000119108
Corneal finding 246924004
Degenerative disorder 362975008
Developmental disorder 5294002
Congenital disease 66091009
Disorder of eye 371405004
Anterior segment finding 418727003
Disorder of sensory organ 1279550006
Globe finding 246915008
Disorder of eye region 371409005
Visual system disorder 128127008
Disorder of head 118934005
Finding of head region 298364001
Eye / vision finding 118235002
Head finding 406122000
Disorder of body system 362965005
Disease 64572001
Finding of head and neck region 118254002
Clinical finding 404684003
SNOMED CT Concept 138875005

cpt crosswalks

Rules-based maps relating CPT® codes to and from SNOMED CT® clinical concepts. Forward and backward mapping allows for easy transition between code sets. Map-A-Code crosswalk tool easily crosswalks multiple codes between the code sets.

Access to this feature is available in the following products:

CPT® to SNOMED Crosswalks

Thank you for choosing Find-A-Code, please Sign In to remove ads.

MY NEWSLETTERS

FEES

FACILITY

RISK ADJUSTMENT

SNOMED CT Concept 138875005

Clinical finding 404684003

Mental state, behavior and/or psychosocial function finding 384821006

Behavior finding 844005

Intellectual disability 110359009

Spondylometaphyseal dysplasia, corneal dystrophy syndrome 1269226006

SNOMED CT code