Symptomatic form of fragile X syndrome in female carrier 1237344003

SNOMED CT code

SNOMED code

1237344003

name

Symptomatic form of fragile X syndrome in female carrier

status

active

date introduced

2022-09-30

fully specified name(s)

Symptomatic form of fragile X syndrome in female carrier (disorder)

synonyms

Symptomatic form of fragile X syndrome in female carrier

attributes - group3

Interprets

Adaptation behavior 406208005

Has interpretation

Impaired 260379002

attributes - group4

Interprets

Intellectual ability 247573007

Has interpretation

Impaired 260379002

attributes - group1

Occurrence

Congenital 255399007

Finding site

Sex chromosome X 72837006

Associated morphology

Chromosomal morphology 107675007

Pathological process

Pathological developmental process 308490002

attributes - group2

Occurrence

Congenital 255399007

Finding site

Face structure 89545001

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

parents

Fragile X syndrome 613003

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
Fragile X syndrome 613003
Symptomatic form of fragile X syndrome in female carrier 1237344003

ancestors

sorted most to least specific

Fragile X syndrome 613003
Intellectual disability 110359009
X-linked dominant hereditary disease 1162984000
Fragile X chromosome 205720009
Developmental hereditary disorder 363070008
Multiple malformation syndrome with facial defects as major feature 65094009
Intellectual ability - finding 365814006
X-linked hereditary disease 128430005
Anomaly of chromosome X 111312006
Congenital anomaly of face 398302004
Impaired cognition 386806002
Neurodevelopmental disorder 700364009
Behavior finding 844005
Multiple system malformation syndrome 82354003
Intelligence finding 106137004
Sex-linked hereditary disorder 82852009
Anomaly of sex chromosome 95462004
Disorder of face 118930001
Cognitive function finding 373930000
Mental state, behavior and/or psychosocial function finding 384821006
Congenital malformation syndrome 400038003
Congenital anomaly of head 87290003
Functional finding 118228005
Hereditary disease 32895009
Anomaly of chromosome pair 362984008
Disorder of head 118934005
Congenital malformation 276654001
Finding of face 301310005
Genetic disease 782964007
Congenital chromosomal disease 74345006
Developmental disorder 5294002
Finding of head region 298364001
Chromosomal disorder 409709004
Head finding 406122000
Congenital disease 66091009
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

Mental state, behavior and/or psychosocial function finding 384821006

Behavior finding 844005

Intellectual disability 110359009

Fragile X syndrome 613003

Symptomatic form of fragile X syndrome in female carrier 1237344003

SNOMED CT code