Macrosomia, microphthalmia, cleft palate syndrome 773282001

SNOMED CT code

SNOMED code

773282001

name

Macrosomia, microphthalmia, cleft palate syndrome

status

active

date introduced

2019-01-31

fully specified name(s)

Macrosomia, microphthalmia, cleft palate syndrome (disorder)

synonyms

Macrosomia, microphthalmia, cleft palate syndrome
Teebi Al Saleh Hassoon syndrome

attributes - group1

Occurrence

Congenital 255399007

Associated morphology

Congenital smallness 41086002

Pathological process

Pathological developmental process 308490002

Finding site

Entire eye proper 1290040004

parents

Developmental hereditary disorder 363070008
Hereditary disorder of the visual system 363343008
Multiple malformation syndrome with early overgrowth 48637007
Microphthalmos 61142002
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Macrosomia, microphthalmia, cleft palate syndrome 773282001

SNOMED CT Concept 138875005
Clinical finding 404684003
Eye / vision finding 118235002
Visual system disorder 128127008
Hereditary disorder of the visual system 363343008
Macrosomia, microphthalmia, cleft palate syndrome 773282001

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Congenital malformation 276654001
Congenital malformation syndrome 400038003
Multiple system malformation syndrome 82354003
Multiple malformation syndrome with early overgrowth 48637007
Macrosomia, microphthalmia, cleft palate syndrome 773282001

SNOMED CT Concept 138875005
Clinical finding 404684003
Eye / vision finding 118235002
Visual system disorder 128127008
Congenital anomaly of visual system 127329003
Congenital anomaly of eye 19416009
Microphthalmos 61142002
Macrosomia, microphthalmia, cleft palate syndrome 773282001

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Macrosomia, microphthalmia, cleft palate syndrome 773282001

ancestors

sorted most to least specific

Developmental hereditary disorder 363070008
Hereditary disorder of the visual system 363343008
Multiple malformation syndrome with early overgrowth 48637007
Microphthalmos 61142002
Autosomal recessive hereditary disorder 85995004
Multiple system malformation syndrome 82354003
Congenital anomaly of eye 19416009
Autosomal hereditary disorder 1899006
Hereditary disorder by system 363137000
Hereditary disease 32895009
Congenital malformation syndrome 400038003
Anomaly of eye 11131000119108
Congenital anomaly of visual system 127329003
Congenital anomaly of head 87290003
Genetic disease 782964007
Congenital malformation 276654001
Disorder of eye 371405004
Developmental disorder 5294002
Disorder of sensory organ 1279550006
Congenital disease 66091009
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
Disorder of body system 362965005
Head finding 406122000
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

Developmental disorder 5294002

Developmental hereditary disorder 363070008

Macrosomia, microphthalmia, cleft palate syndrome 773282001

SNOMED CT code