Thakker Donnai syndrome 773281008

SNOMED CT code

SNOMED code

773281008

name

Thakker Donnai syndrome

status

active

date introduced

2019-01-31

fully specified name(s)

Thakker Donnai syndrome (disorder)

synonyms

Thakker Donnai syndrome
Facial dysmorphism, multiple structural anomalies syndrome

attributes - group1

Associated morphology

Morphologically abnormal structure 49755003

Occurrence

Congenital 255399007

Finding site

Face structure 89545001

Pathological process

Pathological developmental process 308490002

parents

Developmental hereditary disorder 363070008
Multiple malformation syndrome with facial defects as major feature 65094009
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
Thakker Donnai syndrome 773281008

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
Thakker Donnai syndrome 773281008

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Thakker Donnai syndrome 773281008

ancestors

sorted most to least specific

Developmental hereditary disorder 363070008
Multiple malformation syndrome with facial defects as major feature 65094009
Autosomal recessive hereditary disorder 85995004
Congenital anomaly of face 398302004
Autosomal hereditary disorder 1899006
Multiple system malformation syndrome 82354003
Hereditary disease 32895009
Disorder of face 118930001
Congenital malformation syndrome 400038003
Congenital anomaly of head 87290003
Genetic disease 782964007
Disorder of head 118934005
Congenital malformation 276654001
Finding of face 301310005
Developmental disorder 5294002
Finding of head region 298364001
Congenital disease 66091009
Disease 64572001
Head finding 406122000
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

Thakker Donnai syndrome 773281008

SNOMED CT code