724281002: Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Hypoplasia of eye\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Disorder of the nose\Disorder of external nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Disorder of the nose\Congenital anomaly of nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Finding of head region\Finding of face\Nose finding\Disorder of the nose\Disorder of external nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Finding of head region\Finding of face\Nose finding\Disorder of the nose\Congenital anomaly of nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Hypoplasia of eye\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Finding of head region\Disorder of nose and nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Finding of head region\Disorder of nose and nasopharynx\Disorder of the nose\Disorder of external nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Finding of head region\Disorder of nose and nasopharynx\Disorder of the nose\Congenital anomaly of nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Hypoplasia of eye\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of nose and nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of nose and nasopharynx\Disorder of the nose\Disorder of external nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of nose and nasopharynx\Disorder of the nose\Congenital anomaly of nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Disorder of the nose\Disorder of external nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Disorder of the nose\Congenital anomaly of nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Hypoplasia of eye\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Head finding\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of the nose\Disorder of external nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of the nose\Congenital anomaly of nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Ear, nose and throat finding\Nose finding\Disorder of the nose\Disorder of external nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Finding of head and neck region\Ear, nose and throat finding\Nose finding\Disorder of the nose\Congenital anomaly of nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Hypoplasia of eye\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Hypoplasia of eye\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Hypoplasia of eye\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Hypoplasia of eye\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Hypoplasia of eye\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Ear, nose and throat disorder\Disorder of the nose\Disorder of external nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Ear, nose and throat disorder\Disorder of the nose\Congenital anomaly of nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Hypoplasia of eye\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Disorder of head\Disorder of nose and nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Disorder of head\Disorder of nose and nasopharynx\Disorder of the nose\Disorder of external nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Disorder of head\Disorder of nose and nasopharynx\Disorder of the nose\Congenital anomaly of nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Disorder of head\Disorder of face\Disorder of the nose\Disorder of external nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Disorder of head\Disorder of face\Disorder of the nose\Congenital anomaly of nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Hypoplasia of eye\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Congenital disease\Congenital hypogonadotropic hypogonadism\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Hypoplasia of eye\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Hypoplasia of eye\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Hypoplasia of eye\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital hypoplasia of nose\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Hypoplasia of eye\Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3433559013	Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3433560015	Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3433561016	Bosma Henkin Christiansen syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3433562011	Syndrome with the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. It has been described in two males. Additional features included bilateral inguinal hernias, undescended testes, and impaired vision with cataracts and colobomata.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start