FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

19416009: Congenital anomaly of eye (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3006523012 Congenital malformation of eye en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
32707017 Congenital anomaly of eye en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
32710012 Congenital deformity of eye en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
379111000172110 anomalie congénitale de l'œil fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
402901000241113 anomalie congénitale de l'œil (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
479474017 Congenital abnormality of eye en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
479475016 Congenital anomaly of the globe en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
479476015 Congenital eye anomalies en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
747514015 Congenital anomaly of eye (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


450 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of eye Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital anomaly of eye morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Congenital anomaly of eye est un(e) (attribut) Disorder of eye proper (disorder) false Inferred relationship Some
Congenital anomaly of eye est un(e) (attribut) Congenital anomaly of head false Inferred relationship Some
Congenital anomaly of eye est un(e) (attribut) Disease of eye false Inferred relationship Some
Congenital anomaly of eye est un(e) (attribut) Congenital anomaly of visual system false Inferred relationship Some
Congenital anomaly of eye est un(e) (attribut) Congenital anomaly of orbit proper (disorder) false Inferred relationship Some
Congenital anomaly of eye est un(e) (attribut) Congenital disease false Inferred relationship Some
Congenital anomaly of eye est un(e) (attribut) Congenital anomaly of head true Inferred relationship Some
Congenital anomaly of eye morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
Congenital anomaly of eye morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
Congenital anomaly of eye localisation d'une constatation (attribut) Structure of eye proper (body structure) false Inferred relationship Some 1
Congenital anomaly of eye survenue (attribut) congénital false Inferred relationship Some 2
Congenital anomaly of eye morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
Congenital anomaly of eye localisation d'une constatation (attribut) Structure of eye proper (body structure) false Inferred relationship Some 2
Congenital anomaly of eye est un(e) (attribut) Congenital anomaly of visual system true Inferred relationship Some
Congenital anomaly of eye survenue (attribut) congénital true Inferred relationship Some 1
Congenital anomaly of eye localisation d'une constatation (attribut) Structure of eye proper (body structure) true Inferred relationship Some 1
Congenital anomaly of eye est un(e) (attribut) Anomaly of eye (disorder) true Inferred relationship Some
Congenital anomaly of eye localisation d'une constatation (attribut) système nerveux false Inferred relationship Some
Congenital anomaly of eye morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
Congenital anomaly of eye localisation d'une constatation (attribut) Structure of eye proper (body structure) false Inferred relationship Some 1
Congenital anomaly of eye survenue (attribut) congénital false Inferred relationship Some
Congenital anomaly of eye localisation d'une constatation (attribut) Orbital region structure false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
RAB18, member RAS oncogene family deficiency (disorder) est un(e) (attribut) True Congenital anomaly of eye Inferred relationship Some
Anophthalmia plus syndrome (disorder) est un(e) (attribut) True Congenital anomaly of eye Inferred relationship Some
Muscle eye brain disease with bilateral multicystic leukodystrophy est un(e) (attribut) True Congenital anomaly of eye Inferred relationship Some
Lowe syndrome est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Congenital abnormality of iris and ciliary body est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Hypoplasia of eye est un(e) (attribut) True Congenital anomaly of eye Inferred relationship Some
Congenital epibulbar choristoma of bilateral eyes est un(e) (attribut) True Congenital anomaly of eye Inferred relationship Some
Glaucoma due to congenital anomaly of eye Due to True Congenital anomaly of eye Inferred relationship Some 2
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) est un(e) (attribut) True Congenital anomaly of eye Inferred relationship Some
Congenital anomaly of cornea est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Congenital anomaly of lens est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Congenital anomaly of posterior segment of eye est un(e) (attribut) True Congenital anomaly of eye Inferred relationship Some
triade de Hutchinson est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Partial hypoplasia of optic disc est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Sectorial hypoplasia of optic disc est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Congenital anomaly of lacrimal system est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Retinal dystrophy in systemic lipidosis est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
HSMN IV est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
syndrome de Kearns-Sayre (trouble) est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Buphthalmos est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Weill-Marchesani syndrome est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Osteogenesis imperfecta with blue sclerae est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Gyrate atrophy of the choroid and retina est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
iritis goutteuse est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Congenital melanosis of sclera (disorder) est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Globe of eye vestigial est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Alstrom syndrome est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Oculocutaneous albinism est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Cerebrofacial arteriovenous metameric syndrome type 2 est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Septo-optic dysplasia sequence est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Stickler syndrome est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Congenital conjunctival cyst est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Congenital anomaly of third eyelid est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
oculopathie syphilitique congénitale tardive est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Retinal dystrophy in cerebroretinal lipidosis est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Atrophia bulborum hereditaria est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Hypoplasia of optic disc (disorder) est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Retinal hemangioblastomatosis est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
albinisme oculaire (trouble) est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Leber's amaurosis est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Congenital vascular anomaly of eye est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Congenital nystagmus (disorder) est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Congenital anomaly of sclera est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Congenital glaucoma (disorder) est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Congenital ectopic pupil (disorder) est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Persistent tunica vasculosa lentis est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Osteogenesis imperfecta with blue sclerae AND normal teeth est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Persistent pupillary membranes est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Congenital anomaly of anterior chamber of eye est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Ankyloblepharon est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
nævus d'Ota est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
mélanose oculaire est un(e) (attribut) True Congenital anomaly of eye Inferred relationship Some
Congenital mydriasis (disorder) est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Congenital cystic eyeball (disorder) est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Microphthalmos est un(e) (attribut) True Congenital anomaly of eye Inferred relationship Some
Congenital oculocutaneous hypopigmentation est un(e) (attribut) True Congenital anomaly of eye Inferred relationship Some
Congenital cyst of posterior segment of eye est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Congenital stationary night blindness est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Congenital axial myopia est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Congenital color blindness est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Partial hypoplasia of optic disc est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Irido-corneal dysgenesis est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Congenital anomaly of cornea est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Congenital anomaly of lens est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Congenital anomaly of iris est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Albinism est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Congenital anomaly of sclera est un(e) (attribut) True Congenital anomaly of eye Inferred relationship Some
Congenital anisocoria (disorder) est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Coloboma of eye est un(e) (attribut) True Congenital anomaly of eye Inferred relationship Some
Acquired cartilage anomaly of third eyelid est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Ectopic pupil est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Anophthalmos est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
albinisme oculaire (trouble) est un(e) (attribut) True Congenital anomaly of eye Inferred relationship Some
Irido-corneo-trabecular dysgenesis est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Oculocutaneous albinism est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Glaucoma and corneal anomaly associé à (attribut) True Congenital anomaly of eye Inferred relationship Some 1
Glaucoma associated with iridocorneal endothelial syndrome (disorder) associé à (attribut) False Congenital anomaly of eye Inferred relationship Some 4
Glaucoma associated with anterior segment anomaly associé à (attribut) True Congenital anomaly of eye Inferred relationship Some 1
Congenital ectopic pupil (disorder) est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Congenital anisocoria (disorder) est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Osteogenesis imperfecta with blue sclerae AND normal teeth est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Macrophthalmos est un(e) (attribut) True Congenital anomaly of eye Inferred relationship Some
Congenital malposition of eye est un(e) (attribut) True Congenital anomaly of eye Inferred relationship Some
Coloboma of eye est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Congenital blindness est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Congenital anomaly of anterior segment of eye (disorder) est un(e) (attribut) True Congenital anomaly of eye Inferred relationship Some
Congenital eye disorder screening a pour objet (attribut) True Congenital anomaly of eye Inferred relationship Some 2
Agenesis of eye est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Anterior chamber anomalies est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Multiple anterior segment anomalies est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Congenital anomalies of eyelid, lacrimal system and orbit est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Congenital orbit anomalies est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Multiple supernumerary eye muscles est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Hypoplasia of eye muscle est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Other specified anterior segment anomalies est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Other specified eye anomalies est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some
Other eye anomalies NOS est un(e) (attribut) False Congenital anomaly of eye Inferred relationship Some

Page 1 of 2 End


This concept is not in any reference sets

Back to Start