Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome 724281002

SNOMED CT code

SNOMED code

724281002

name

Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome

status

active

date introduced

2017-07-31

fully specified name(s)

Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)

synonyms

Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
Bosma Henkin Christiansen syndrome

attributes - group4

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Finding site

External nose structure 44032009

Associated morphology

Hypoplasia 55199003

attributes - group1

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Associated morphology

Hypoplasia 55199003

Finding site

Entire eye proper 1290040004

attributes - group3

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Structure of distal part of pituitary 52618001

attributes - group2

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Gonadal endocrine structure 304041004

parents

Multiple malformation syndrome with facial defects as major feature 65094009
Congenital hypogonadotropic hypogonadism 722944006
Hypoplasia of eye 86527000
Congenital hypoplasia of nose 93278002

hierarchies

a selection of possible paths

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
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome 724281002

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Congenital disease 66091009
Congenital hypogonadotropic hypogonadism 722944006
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome 724281002

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
Hypoplasia of eye 86527000
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome 724281002

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Ear, nose and throat disorder 232208008
Disorder of the nose 89488007
Disorder of external nose 232379004
Congenital hypoplasia of nose 93278002
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome 724281002

ancestors

sorted most to least specific

Multiple malformation syndrome with facial defects as major feature 65094009
Congenital hypogonadotropic hypogonadism 722944006
Hypoplasia of eye 86527000
Congenital hypoplasia of nose 93278002
Hypogonadotropic hypogonadism 33927004
Congenital anomaly of eye 19416009
Congenital anomaly of nose 128274005
Multiple system malformation syndrome 82354003
Disorder of external nose 232379004
Congenital anomaly of face 398302004
Hypogonadism 48130008
Anomaly of eye 11131000119108
Congenital abnormality of nose and nasopharynx 282040001
Congenital malformation syndrome 400038003
Disorder of anterior pituitary 51742006
Hypopituitarism 74728003
Congenital anomaly of visual system 127329003
Disorder of the nose 89488007
Disorder of face 118930001
Disorder of endocrine gonad 127345001
Disorder of eye 371405004
Disorder of nose and nasopharynx 232339008
Congenital anomaly of head 87290003
Disorder of pituitary gland 399244003
Nose finding 118237005
Ear, nose and throat disorder 232208008
Genital finding 300479008
Disorder of sensory organ 1279550006
Congenital malformation 276654001
Finding of face 301310005
Disorder of endocrine system 362969004
Disorder of reproductive system 362968007
Globe finding 246915008
Disorder of eye region 371409005
Ear, nose and throat finding 297268004
Disorder of brain 81308009
Disorder of head 118934005
Developmental disorder 5294002
Finding of head region 298364001
Congenital disease 66091009
Disorder of the genitourinary system 42030000
Visual system disorder 128127008
Disorder of the central nervous system 23853001
Finding of brain 299718000
Head finding 406122000
Urogenital finding 118238000
Eye / vision finding 118235002
Disorder of abdominopelvic segment of trunk 822988000
Disorder of nervous system 118940003
Central nervous system finding 246556002
Finding of head and neck region 118254002
Finding of abdominopelvic segment of trunk 822987005
Disorder of body system 362965005
Disorder of trunk 128121009
Finding of trunk structure 302292003
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 face 118930001

Congenital anomaly of face 398302004

Multiple malformation syndrome with facial defects as major feature 65094009

Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome 724281002

SNOMED CT code