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1285322008: Triopia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5246544014 Triopia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5246545010 Triopia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5255342013 Unilateral ocular duplication en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5255343015 Unilateral diplophthalmia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5255344014 Triophthalmia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5255345010 Unilateral diplophthalmos en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5246546011 A rare developmental defect during embryogenesis with characteristics of unilateral duplication of an eye which may appear as a synophthalmia in a single orbit or as two separate unilateral eyes, each in a separate orbit. The malformation is always associated with other anomalies of the central nervous system (such as porencephaly, meningocele, or arachnoidal cysts) and with craniofacial abnormalities. A proboscis is often found. Clinically, moderate mental retardation and epilepsy are typical. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Triopia Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Triopia Is a Congenital anomaly of central nervous system true Inferred relationship Some
Triopia Is a Congenital anomaly of eye true Inferred relationship Some
Triopia Is a Congenital abnormality of skull and face bones true Inferred relationship Some
Triopia Is a Developmental hereditary disorder true Inferred relationship Some
Triopia Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Triopia Is a Hereditary disorder of nervous system true Inferred relationship Some
Triopia Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Triopia Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Triopia Occurrence Congenital true Inferred relationship Some 1
Triopia Finding site Eye structure true Inferred relationship Some 1
Triopia Associated morphology Double structure true Inferred relationship Some 1
Triopia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Triopia Occurrence Congenital true Inferred relationship Some 2
Triopia Finding site Structure of central nervous system (body structure) true Inferred relationship Some 2
Triopia Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Triopia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Triopia Occurrence Congenital true Inferred relationship Some 3
Triopia Finding site Bone structure of head true Inferred relationship Some 3
Triopia Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Triopia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Triopia Occurrence Congenital true Inferred relationship Some 4
Triopia Finding site Face structure true Inferred relationship Some 4
Triopia Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Triopia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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