724139004: Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\Finding of head region\Lacrimal system finding\Lacrimal drainage pathway finding\Disorder of lacrimal passage\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Head finding\Finding of head region\Lacrimal system finding\Lacrimal drainage pathway finding\Disorder of lacrimal passage\Disorder of nasolacrimal duct\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Head finding\Finding of head region\Lacrimal system finding\Disorder of lacrimal system\Disorder of lacrimal passage\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Head finding\Finding of head region\Lacrimal system finding\Disorder of lacrimal system\Disorder of lacrimal passage\Disorder of nasolacrimal duct\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Head finding\Finding of head region\Lacrimal system finding\Disorder of lacrimal system\Congenital anomaly of lacrimal system\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Microtia, eye coloboma, imperforation of nasolacrimal duct 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\Coloboma of eye\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of lacrimal system\Disorder of lacrimal passage\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of lacrimal system\Disorder of lacrimal passage\Disorder of nasolacrimal duct\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of lacrimal system\Congenital anomaly of lacrimal system\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Microtia\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Microtia\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Microtia\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Microtia, eye coloboma, imperforation of nasolacrimal duct 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\Coloboma of eye\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Microtia, eye coloboma, imperforation of nasolacrimal duct 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\Coloboma of eye\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of lacrimal system\Disorder of lacrimal passage\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of lacrimal system\Disorder of lacrimal passage\Disorder of nasolacrimal duct\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of lacrimal system\Congenital anomaly of lacrimal system\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Microtia\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Microtia\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Microtia\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Microtia\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Microtia\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Microtia\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Microtia\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Microtia\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Microtia\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Microtia\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Ear and auditory finding\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Microtia\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Microtia\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Microtia\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome

\Eye / vision finding\Lacrimal system finding\Lacrimal drainage pathway finding\Disorder of lacrimal passage\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Eye / vision finding\Lacrimal system finding\Lacrimal drainage pathway finding\Disorder of lacrimal passage\Disorder of nasolacrimal duct\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Eye / vision finding\Lacrimal system finding\Disorder of lacrimal system\Disorder of lacrimal passage\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Eye / vision finding\Lacrimal system finding\Disorder of lacrimal system\Disorder of lacrimal passage\Disorder of nasolacrimal duct\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Eye / vision finding\Lacrimal system finding\Disorder of lacrimal system\Congenital anomaly of lacrimal system\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of lacrimal system\Disorder of lacrimal passage\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of lacrimal system\Disorder of lacrimal passage\Disorder of nasolacrimal duct\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of lacrimal system\Congenital anomaly of lacrimal system\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Microtia\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Microtia\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of lacrimal system\Disorder of lacrimal passage\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of lacrimal system\Disorder of lacrimal passage\Disorder of nasolacrimal duct\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of lacrimal system\Congenital anomaly of lacrimal system\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Microtia\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Microtia\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of lacrimal system\Disorder of lacrimal passage\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of lacrimal system\Disorder of lacrimal passage\Disorder of nasolacrimal duct\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of lacrimal system\Congenital anomaly of lacrimal system\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Microtia\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Microtia\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Disorder of head\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Microtia\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Microtia\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Microtia\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital abnormality of lacrimal drainage system\Atresia of nasolacrimal duct\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3498180013 Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome en Synonym Active Case insensitive SNOMED CT core

3498181012 Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3498182017 Balikova Vermeesch syndrome en Synonym Active Case sensitive SNOMED CT core

3499907019 Syndrome with the association of microtia, eye coloboma and imperforation of the nasolacrimal duct. So far, it has been described in only one family. The phenotype is associated with the presence of five copies of a copy-number-variable region (CNV) located at 4pter. This is the first example of an amplified CNV being associated with a Mendelian disorder. Transmission is autosomal dominant. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Associated morphology	Congenital atresia	true	Inferred relationship	Some	1
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	2
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Finding site	Eye structure	true	Inferred relationship	Some	2
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Finding site	Nasolacrimal duct structure	true	Inferred relationship	Some	1
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Is a	Microtia	true	Inferred relationship	Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Is a	Coloboma of eye	true	Inferred relationship	Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Is a	Atresia of nasolacrimal duct	true	Inferred relationship	Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	3
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Finding site	External ear structure	true	Inferred relationship	Some	3
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Finding site	Eye structure	false	Inferred relationship	Some	5
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Associated morphology	Congenital atresia	false	Inferred relationship	Some	3
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Finding site	Nasolacrimal duct structure	false	Inferred relationship	Some	3
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Some	4
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Finding site	External ear structure	false	Inferred relationship	Some	4
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
3498180013	Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3498181012	Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3498182017	Balikova Vermeesch syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3499907019	Syndrome with the association of microtia, eye coloboma and imperforation of the nasolacrimal duct. So far, it has been described in only one family. The phenotype is associated with the presence of five copies of a copy-number-variable region (CNV) located at 4pter. This is the first example of an amplified CNV being associated with a Mendelian disorder. Transmission is autosomal dominant.	en	Definition	Active	Case sensitive	SNOMED CT core