Arrhinia with choanal atresia and microphthalmia syndrome 720511000

SNOMED CT code

SNOMED code

720511000

name

Arrhinia with choanal atresia and microphthalmia syndrome

status

active

date introduced

2017-01-31

fully specified name(s)

Arrhinia with choanal atresia and microphthalmia syndrome (disorder)

synonyms

Arrhinia with choanal atresia and microphthalmia syndrome
Arhinia, choanal atresia and microphthalmia
Ruprecht Majewski syndrome
Bosma arhinia microphthalmia syndrome
Arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism
BAMS - Bosma arhinia microphthalmia syndrome
Gifford Bosma syndrome
Bosma syndrome

attributes - group3

Pathological process

Pathological developmental process 308490002

Associated morphology

Absence 418560003

Occurrence

Congenital 255399007

Finding site

Nasal structure 45206002

attributes - group1

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Finding site

Structure of choana 71717001

Associated morphology

Congenital atresia 56457002

attributes - group2

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Associated morphology

Congenital smallness 41086002

Finding site

Entire eye proper 1290040004

parents

Choanal atresia 204508009
Microphthalmos 61142002
Multiple malformation syndrome with facial defects as major feature 65094009

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of head 118934005
Disorder of nose and nasopharynx 232339008
Congenital abnormality of nose and nasopharynx 282040001
Congenital atresia of nasopharynx 59423009
Choanal atresia 204508009
Arrhinia with choanal atresia and microphthalmia syndrome 720511000

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
Arrhinia with choanal atresia and microphthalmia syndrome 720511000

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
Arrhinia with choanal atresia and microphthalmia syndrome 720511000

ancestors

sorted most to least specific

Choanal atresia 204508009
Microphthalmos 61142002
Multiple malformation syndrome with facial defects as major feature 65094009
Congenital atresia of nares 367468008
Congenital anomaly of eye 19416009
Congenital atresia of nasopharynx 59423009
Multiple system malformation syndrome 82354003
Congenital anomaly of nose 128274005
Anomaly of eye 11131000119108
Lesion of nasal cavity 751960361000119108
Congenital anomaly of visual system 127329003
Congenital malformation syndrome 400038003
Congenital atresia of pharynx 29632002
Lesion of nasopharynx 699210003
Congenital abnormality of nose and nasopharynx 282040001
Disorder of eye 371405004
Congenital anomaly of face 398302004
Disorder of nasal cavity 232340005
Congenital anomaly of pharynx 11223009
Disorder of nasopharynx 123952009
Lesion of nose 301191003
Lesion of pharynx 71741000112102
Disorder of sensory organ 1279550006
Congenital anomaly of upper respiratory system 4160001
Disorder of the nose 89488007
Congenital anomaly of head 87290003
Globe finding 246915008
Disorder of eye region 371409005
Congenital anomaly of digestive organ 128332003
Lesion of face 767811005
Nasal airway finding 249342004
Disorder of pharynx 75860007
Congenital malformation of upper alimentary tract 275262008
Nasopharynx finding 249362007
Disorder of nose and nasopharynx 232339008
Disorder of face 118930001
Disorder of upper respiratory system 201060008
Nose finding 118237005
Visual system disorder 128127008
Congenital malformation of the respiratory system 275260000
Finding of pharynx 116338005
Disorder of upper digestive tract 50410009
Disorder of digestive organ 76712006
Congenital anomaly of digestive tract 95470009
Disorder of head 118934005
Ear, nose and throat disorder 232208008
Eye / vision finding 118235002
Finding of face 301310005
Congenital anomaly of digestive system 69518005
Upper respiratory tract finding 301186004
Disorder of respiratory system 50043002
Disorder of digestive tract 84410009
Ear, nose and throat finding 297268004
Finding of head region 298364001
Congenital malformation 276654001
Respiratory finding 106048009
Disorder of digestive system 53619000
Head finding 406122000
Developmental disorder 5294002
Disorder of body system 362965005
Congenital disease 66091009
Digestive system finding 386617003
Finding of head and neck region 118254002
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Disorder of head 118934005

Disorder of nose and nasopharynx 232339008

Congenital abnormality of nose and nasopharynx 282040001

Congenital atresia of nasopharynx 59423009

Choanal atresia 204508009

Arrhinia with choanal atresia and microphthalmia syndrome 720511000

SNOMED CT code