Macrocephaly, short stature, paraplegia syndrome 722033000

SNOMED CT code

SNOMED code

722033000

name

Macrocephaly, short stature, paraplegia syndrome

status

active

date introduced

2017-01-31

fully specified name(s)

Macrocephaly, short stature, paraplegia syndrome (disorder)

synonyms

Macrocephaly, short stature, paraplegia syndrome
Volcke Soekarman syndrome

attributes - group4

Finding site

Cerebellar vermis structure 58501004

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Associated morphology

Hypoplasia 55199003

attributes - group1

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Face structure 89545001

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

attributes - group3

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Cerebellar vermis structure 58501004

Associated morphology

Congenital malrotation 48641006

attributes - group5

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Fourth ventricle structure 35918002

Associated morphology

Cystic dilatation 125269003

attributes - group6

Pathological process

Pathological developmental process 308490002

Finding site

Infratentorial brain structure 21031007

Occurrence

Congenital 255399007

Associated morphology

Cystic dilatation 125269003

attributes - group8

Interprets

Height / growth measure 271603002

attributes - group2

Has interpretation

Above reference range 281302008

Interprets

Head circumference 363812007

attributes - group9

Interprets

Intellectual ability 247573007

Has interpretation

Impaired 260379002

attributes - group10

Interprets

Adaptation behavior 406208005

Has interpretation

Impaired 260379002

attributes - group7

Interprets

Movement 255324009

attributes - group11

Finding site

Left lower extremity structure 32153003

attributes - group12

Finding site

Right lower extremity structure 62175007

attributes - group13

Interprets

Movement observable 363847004

Has interpretation

Absent 2667000

parents

Intellectual disability 110359009
Congenital macrocephaly 1145402008
Dandy-Walker syndrome 14447001
Spastic paraplegia 192967009
Short stature disorder 237836003
Multiple malformation syndrome with facial defects as major feature 65094009
Extrapyramidal disease 76349003

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
Macrocephaly, short stature, paraplegia syndrome 722033000

SNOMED CT Concept 138875005
Clinical finding 404684003
Body measurement finding 365605003
Finding of head circumference 301338002
Macrocephaly 1145403003
Congenital macrocephaly 1145402008
Macrocephaly, short stature, paraplegia syndrome 722033000

SNOMED CT Concept 138875005
Clinical finding 404684003
Neurological lesion 299735001
Lesion of brain 301766008
Cystic malformation of posterior fossa 35111000119109
Dandy-Walker syndrome 14447001
Macrocephaly, short stature, paraplegia syndrome 722033000

SNOMED CT Concept 138875005
Clinical finding 404684003
Central nervous system finding 246556002
Disorder of the central nervous system 23853001
Spastic syndrome 386781001
Spastic paraplegia 192967009
Macrocephaly, short stature, paraplegia syndrome 722033000

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of general physiological development 271616002
Disorder of stature 237834000
Short stature disorder 237836003
Macrocephaly, short stature, paraplegia syndrome 722033000

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of head 118934005
Disorder of face 118930001
Congenital anomaly of face 398302004
Multiple malformation syndrome with facial defects as major feature 65094009
Macrocephaly, short stature, paraplegia syndrome 722033000

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of movement 298325004
Movement disorder 60342002
Extrapyramidal disease 76349003
Macrocephaly, short stature, paraplegia syndrome 722033000

ancestors

sorted most to least specific

Intellectual disability 110359009
Congenital macrocephaly 1145402008
Dandy-Walker syndrome 14447001
Spastic paraplegia 192967009
Short stature disorder 237836003
Multiple malformation syndrome with facial defects as major feature 65094009
Extrapyramidal disease 76349003
Intellectual ability - finding 365814006
Macrocephaly 1145403003
Congenital cerebellar hypoplasia 16026008
Spastic syndrome 386781001
Disorder of stature 237834000
Congenital anomaly of face 398302004
Impaired cognition 386806002
Neurodevelopmental disorder 700364009
Behavior finding 844005
Cystic malformation of posterior fossa 35111000119109
Congenital hydrocephalus 47032000
Paraplegia 60389000
Multiple system malformation syndrome 82354003
Intelligence finding 106137004
Finding of head circumference 301338002
Dysgenesis of the cerebellum 253171007
General finding of height 248327008
Disorder of face 118930001
Cognitive function finding 373930000
Mental state, behavior and/or psychosocial function finding 384821006
Lesion of brain 301766008
Hydrocephalus 230745008
Congenital hypoplasia of part of brain 78693004
Complete bilateral paralysis 29188005
Finding of general physiological development 271616002
Congenital malformation syndrome 400038003
Bilateral lower limb paralytic syndrome 609553000
Functional finding 118228005
Cerebellar disorder 223176004
Height / growth finding 365714001
Neurological lesion 299735001
Congenital hypoplasia of brain 127551000119100
Finding of face 301310005
Paralytic syndrome 29426003
Disorder of right lower extremity 451421000124102
Disorder of left lower extremity 451431000124104
Body measurement finding 365605003
Movement disorder 60342002
Congenital anomaly of brain 57148006
Finding of head region 298364001
Paralysis 44695005
Disorder of lower limb 118937003
Disorder of brain 81308009
Congenital anomaly of head 87290003
Congenital anomaly of central nervous system 128124001
Motor dysfunction 52559000
Finding of lower limb 116312005
Disorder of limb 128605003
Disorder of head 118934005
Disorder of the central nervous system 23853001
Finding of movement 298325004
Finding of brain 299718000
Congenital anomaly of nervous system 88425004
Motor nervous system finding 106145009
Finding of limb structure 302293008
Head finding 406122000
Disorder of nervous system 118940003
Central nervous system finding 246556002
Congenital malformation 276654001
Neurological finding 102957003
Finding of head and neck region 118254002
Disorder of body system 362965005
Developmental disorder 5294002
Congenital disease 66091009
Disease 64572001
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

Macrocephaly, short stature, paraplegia syndrome 722033000

SNOMED CT code