Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome 764732004

SNOMED CT code

SNOMED code

764732004

name

Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome

status

active

date introduced

2018-07-31

fully specified name(s)

Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder)

synonyms

Zaki Gleeson syndrome
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
Microcephaly, cerebellar hypoplasia, congenital heart conduction defect syndrome

attributes - group2

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Associated morphology

Hypoplasia 55199003

Finding site

Cerebellar structure 113305005

attributes - group5

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Cardiac conducting system structure 24964005

attributes - group3

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Face structure 89545001

attributes - group1

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Occurrence

Congenital 255399007

Finding site

Limb structure 66019005

attributes - group4

Pathological process

Pathological developmental process 308490002

Finding site

Head structure 69536005

Occurrence

Congenital 255399007

Associated morphology

Congenital smallness 41086002

attributes - group6

Interprets

Birth head circumference 169876006

Has interpretation

Below reference range 281300000

attributes - group7

Interprets

Intellectual ability 247573007

Has interpretation

Impaired 260379002

attributes - group8

Interprets

Adaptation behavior 406208005

Has interpretation

Impaired 260379002

parents

Intellectual disability 110359009
Congenital microcephaly 1148758003
Congenital cerebellar hypoplasia 16026008
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Congenital conduction defect 315027009
Cardiovascular system hereditary disorder 363005004
Developmental hereditary disorder 363070008
Hereditary disorder of nervous system 363235000
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
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome 764732004

SNOMED CT Concept 138875005
Clinical finding 404684003
Body measurement finding 365605003
Finding of head circumference 301338002
Microcephaly 1148757008
Congenital microcephaly 1148758003
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome 764732004

SNOMED CT Concept 138875005
Clinical finding 404684003
Central nervous system finding 246556002
Finding of brain 299718000
Disorder of brain 81308009
Cerebellar disorder 223176004
Dysgenesis of the cerebellum 253171007
Congenital cerebellar hypoplasia 16026008
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome 764732004

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
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome 764732004

SNOMED CT Concept 138875005
Clinical finding 404684003
Cardiovascular finding 106063007
Disorder of cardiovascular system 49601007
Congenital cardiovascular disorder 762228008
Congenital conduction defect 315027009
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome 764732004

SNOMED CT Concept 138875005
Clinical finding 404684003
Cardiovascular finding 106063007
Disorder of cardiovascular system 49601007
Cardiovascular system hereditary disorder 363005004
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome 764732004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome 764732004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of body system 362965005
Disorder of nervous system 118940003
Hereditary disorder of nervous system 363235000
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome 764732004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome 764732004

ancestors

sorted most to least specific

Intellectual disability 110359009
Congenital microcephaly 1148758003
Congenital cerebellar hypoplasia 16026008
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Congenital conduction defect 315027009
Cardiovascular system hereditary disorder 363005004
Developmental hereditary disorder 363070008
Hereditary disorder of nervous system 363235000
Autosomal recessive hereditary disorder 85995004
Intellectual ability - finding 365814006
Microcephaly 1148757008
Dysgenesis of the cerebellum 253171007
Multiple malformation syndrome with limb defect as major feature 41443008
Conduction disorder of the heart 44808001
Hereditary disorder by system 363137000
Autosomal hereditary disorder 1899006
Impaired cognition 386806002
Neurodevelopmental disorder 700364009
Behavior finding 844005
Congenital hypoplasia of part of brain 78693004
Congenital anomaly of limb 60475009
Multiple malformation syndrome with facial defects as major feature 65094009
Congenital cardiovascular disorder 762228008
Intelligence finding 106137004
Finding of head circumference 301338002
Cerebellar disorder 223176004
Multiple system malformation syndrome 82354003
Cardiac arrhythmia 698247007
Hereditary disease 32895009
Cognitive function finding 373930000
Mental state, behavior and/or psychosocial function finding 384821006
Congenital hypoplasia of brain 127551000119100
Disorder of limb 128605003
Congenital anomaly of face 398302004
Functional finding 118228005
Body measurement finding 365605003
Congenital malformation syndrome 400038003
Heart disease 56265001
Genetic disease 782964007
Congenital anomaly of brain 57148006
Finding of limb structure 302293008
Disorder of face 118930001
Disorder of brain 81308009
Cardiac finding 301095005
Congenital anomaly of head 87290003
Congenital anomaly of central nervous system 128124001
Disorder of cardiovascular system 49601007
Disorder of mediastinum 49483002
Finding of face 301310005
Disorder of head 118934005
Cardiovascular finding 106063007
Disorder of the central nervous system 23853001
Finding of brain 299718000
Disorder of thorax 118946009
Mediastinal finding 301296002
Viscus structure finding 406123005
Congenital anomaly of nervous system 88425004
Finding of head region 298364001
Head finding 406122000
Congenital malformation 276654001
Disorder of nervous system 118940003
Central nervous system finding 246556002
Finding of region of thorax 298705000
Disorder of thoracic segment of trunk 609622007
Finding of head and neck region 118254002
Developmental disorder 5294002
Disorder of body system 362965005
Congenital disease 66091009
Finding of upper trunk 609623002
Disorder of trunk 128121009
Disease 64572001
Finding of trunk structure 302292003
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

Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome 764732004

SNOMED CT code