720511000: Arrhinia with choanal atresia and microphthalmia syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Lesion of face\Lesion of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of the nose (disorder)\Lesion of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of the nose (disorder)\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Head finding (finding)\Finding of head region\Finding of face\Nose finding\Disorder of the nose (disorder)\Lesion of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Head finding (finding)\Finding of head region\Finding of face\Nose finding\Disorder of the nose (disorder)\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Head finding (finding)\Finding of head region\Disorder of nose and nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Head finding (finding)\Finding of head region\Disorder of nose and nasopharynx\Disorder of the nose (disorder)\Lesion of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Head finding (finding)\Finding of head region\Disorder of nose and nasopharynx\Disorder of the nose (disorder)\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Head finding (finding)\Disorder of head (disorder)\Disorder of nose and nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Head finding (finding)\Disorder of head (disorder)\Disorder of nose and nasopharynx\Disorder of the nose (disorder)\Lesion of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Head finding (finding)\Disorder of head (disorder)\Disorder of nose and nasopharynx\Disorder of the nose (disorder)\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of the nose (disorder)\Lesion of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of the nose (disorder)\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

\Ear, nose and throat finding\Upper respiratory tract finding\Disorder of upper respiratory system (disorder)\Congenital anomaly of upper respiratory system\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of upper respiratory system (disorder)\Congenital anomaly of upper respiratory system\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of the nose (disorder)\Lesion of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of the nose (disorder)\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Ear, nose and throat finding\Nose finding\Disorder of the nose (disorder)\Lesion of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Ear, nose and throat finding\Nose finding\Disorder of the nose (disorder)\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Eye / vision finding\Visual system disorder (disorder)\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

\Respiratory finding\Upper respiratory tract finding\Disorder of upper respiratory system (disorder)\Congenital anomaly of upper respiratory system\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Respiratory finding\Disorder of respiratory system (disorder)\Disorder of upper respiratory system (disorder)\Congenital anomaly of upper respiratory system\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Respiratory finding\Disorder of respiratory system (disorder)\Fetal and/or neonatal respiratory disorder\Congenital malformation of the respiratory system\Congenital anomaly of upper respiratory system\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation of the respiratory system\Congenital anomaly of upper respiratory system\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Fetal and/or neonatal disorder\Fetal and/or neonatal respiratory disorder\Congenital malformation of the respiratory system\Congenital anomaly of upper respiratory system\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Disorder of body system\Visual system disorder (disorder)\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Disorder of body system\Disorder of respiratory system (disorder)\Disorder of upper respiratory system (disorder)\Congenital anomaly of upper respiratory system\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Disorder of body system\Disorder of respiratory system (disorder)\Fetal and/or neonatal respiratory disorder\Congenital malformation of the respiratory system\Congenital anomaly of upper respiratory system\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Ear, nose and throat disorder\Disorder of upper respiratory system (disorder)\Congenital anomaly of upper respiratory system\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Ear, nose and throat disorder\Disorder of the nose (disorder)\Lesion of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Ear, nose and throat disorder\Disorder of the nose (disorder)\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Disorder of head (disorder)\Disorder of nose and nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Disorder of head (disorder)\Disorder of nose and nasopharynx\Disorder of the nose (disorder)\Lesion of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Disorder of head (disorder)\Disorder of nose and nasopharynx\Disorder of the nose (disorder)\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of the nose (disorder)\Lesion of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of the nose (disorder)\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Developmental disorder\Congenital malformation\Congenital malformation of the respiratory system\Congenital anomaly of upper respiratory system\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Is a	Microphthalmos	true	Inferred relationship	Some
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Is a	Congenital absence of nose	false	Inferred relationship	Some
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Is a	Choanal atresia	true	Inferred relationship	Some
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Associated morphology	Congenital absence	false	Inferred relationship	Some	3
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Occurrence	Congenital	true	Inferred relationship	Some	3
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Finding site	Nasal structure	true	Inferred relationship	Some	3
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Occurrence	Congenital	false	Inferred relationship	Some	4
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Occurrence	Congenital	false	Inferred relationship	Some	5
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Associated morphology	Congenital atresia	false	Inferred relationship	Some	4
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Finding site	Structure of choana (body structure)	false	Inferred relationship	Some	4
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Associated morphology	Congenital smallness	false	Inferred relationship	Some	5
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Finding site	œil entier	false	Inferred relationship	Some	5
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Occurrence	Congenital	true	Inferred relationship	Some	1
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Occurrence	Congenital	true	Inferred relationship	Some	2
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Finding site	Structure of choana (body structure)	true	Inferred relationship	Some	1
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Associated morphology	Congenital atresia	false	Inferred relationship	Some	1
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Finding site	œil entier	false	Inferred relationship	Some	2
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Associated morphology	Congenital smallness	false	Inferred relationship	Some	2
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	3
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Finding site	Entire eye proper	true	Inferred relationship	Some	2
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Associated morphology	Atresia (morphologic abnormality)	true	Inferred relationship	Some	1
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
5402375015	A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402376019	A malformation disorder characterised by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321081010	Arrhinia with choanal atresia and microphthalmia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321082015	Arrhinia with choanal atresia and microphthalmia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321084019	Arhinia, choanal atresia and microphthalmia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3685724016	Ruprecht Majewski syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3685725015	Bosma arhinia microphthalmia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3685726019	Arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3685727011	BAMS - Bosma arhinia microphthalmia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3685728018	Gifford Bosma syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3685729014	Bosma syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5481101000241118	syndrome d'arhinie-atrésie des choanes-microphtalmie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3452901001000117	Arrhinie-Choanalatresie-Mikrophthalmie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module