54873004: Congenital structural abnormality of orbit proper (disorder)

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

\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Congenital structural abnormality of orbit proper (disorder)
\Head finding (finding)\Finding of head region\Orbit finding (finding)\Disorder of orbit proper (disorder)\Congenital structural abnormality of orbit proper (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Congenital structural abnormality of orbit proper (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital structural abnormality of orbit proper (disorder)

\Eye / vision finding\Orbit finding (finding)\Disorder of orbit proper (disorder)\Congenital structural abnormality of orbit proper (disorder)
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Congenital structural abnormality of orbit proper (disorder)
\Eye / vision finding\Visual system disorder (disorder)\Congenital anomaly of visual system\Congenital structural abnormality of orbit proper (disorder)

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital structural abnormality of orbit proper (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital structural abnormality of orbit proper (disorder)
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Congenital structural abnormality of orbit proper (disorder)
\Disease\Disorder of body system\Visual system disorder (disorder)\Congenital anomaly of visual system\Congenital structural abnormality of orbit proper (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Congenital structural abnormality of orbit proper (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital structural abnormality of orbit proper (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital structural abnormality of orbit proper (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital structural abnormality of orbit proper (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital structural abnormality of orbit proper (disorder)	Is a	Disorder of orbit	false	Inferred relationship	Some
Congenital structural abnormality of orbit proper (disorder)	Is a	Congenital anomaly of head	true	Inferred relationship	Some
Congenital structural abnormality of orbit proper (disorder)	Is a	Ear, face and neck congenital anomalies	false	Inferred relationship	Some
Congenital structural abnormality of orbit proper (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Congenital structural abnormality of orbit proper (disorder)	Finding site	Orbital region structure	false	Inferred relationship	Some	1
Congenital structural abnormality of orbit proper (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital structural abnormality of orbit proper (disorder)	Is a	Disorder of orbit proper (disorder)	true	Inferred relationship	Some
Congenital structural abnormality of orbit proper (disorder)	Finding site	Structure of orbit proper	false	Inferred relationship	Some	1
Congenital structural abnormality of orbit proper (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital structural abnormality of orbit proper (disorder)	Finding site	Structure of orbit proper	true	Inferred relationship	Some	1
Congenital structural abnormality of orbit proper (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital structural abnormality of orbit proper (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Congenital structural abnormality of orbit proper (disorder)	Finding site	Structure of orbit proper	false	Inferred relationship	Some	2
Congenital structural abnormality of orbit proper (disorder)	Is a	Congenital anomaly of visual system	true	Inferred relationship	Some
Congenital structural abnormality of orbit proper (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital structural abnormality of orbit proper (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital structural abnormality of orbit proper (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital anomaly of ocular adnexa	Is a	False	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Encephalocele of orbit	Is a	True	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Congenital anomaly of eye	Is a	False	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Hypertelorism	Is a	False	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Orbital separation diminished	Is a	True	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Congenital absence of lacrimal bone	Is a	False	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Congenital abnormal fusion of lacrimal bone	Is a	False	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Congenital abnormal shape of lacrimal bone (disorder)	Is a	False	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Congenital hypoplasia of eye bulge	Is a	True	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Congenital absence of eye bulge	Is a	True	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Rhinocephaly	Is a	True	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Congenital anomaly of lacrimal bone	Is a	True	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others.	Is a	False	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Blepharophimosis syndrome	Is a	False	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Congenital exophthalmos	Is a	True	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Congenital abnormal vertical shortness of eyelids	Is a	False	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Macropalpebral fissure	Is a	True	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Congenital displacement of punctum lacrimale	Is a	False	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Cilioretinal artery	Is a	False	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Congenital malformation of blood vessel of orbit proper (disorder)	Is a	False	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Congenital superior sulcus anomaly of orbit	Is a	False	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Hypoplasia of eye muscle	Is a	False	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Congenital anomalies of eyelid, lacrimal system and orbit	Is a	True	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Multiple supernumerary eye muscles	Is a	False	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Strabismus fixus	Is a	False	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others.	Is a	False	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.	Is a	True	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Microphthalmic socket (disorder)	Is a	True	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Congenital cyst of orbit (disorder)	Is a	True	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Oculopharyngeal muscular dystrophy (disorder)	Is a	False	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Congenital malformation of vitreous humour	Is a	False	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Fibrous dysplasia of orbit (disorder)	Is a	False	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978.	Is a	False	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
A rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975.	Is a	False	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Congenital symblepharon of bilateral conjunctivae (disorder)	Is a	False	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Supernumerary eye muscle	Is a	False	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Congenital deformity of bony orbit	Is a	True	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Congenital expansion of orbit	Is a	True	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Congenital combined bony and soft tissue deformity of orbit (disorder)	Is a	True	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Congenital contraction of orbit	Is a	True	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Congenital meningocele of orbit (disorder)	Is a	True	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Congenital structural abnormality of left orbit proper (disorder)	Is a	True	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some
Congenital structural abnormality of right orbit	Is a	True	Congenital structural abnormality of orbit proper (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
91201019	Congenital anomaly of orbit	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2671430016	Congenital anomaly of orbit proper	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5298100010	Congenital structural abnormality of orbit proper (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5298101014	Congenital structural abnormality of orbit proper	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5298108015	Congenital structural abnormality of orbit	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5848621000241112	anomalie congénitale de l'orbite	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
532371000274119	Kongenitale Fehlbildung der Orbita	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
645031000274116	Kongenitale Anomalie der Orbita	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module