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1010685005: Oculo-auriculo-vertebral spectrum (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4213511010 Oculo-auriculo-vertebral spectrum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4213512015 Oculoauriculovertebral spectrum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4213513013 Oculo-auriculo-vertebral spectrum (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4213514019 OAV (oculo-auriculo-vertebral) spectrum en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399229013 A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated. 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
Oculo-auriculo-vertebral spectrum Is a Dysostosis of bone of skull true Inferred relationship Some
Oculo-auriculo-vertebral spectrum Is a Hemifacial microsomia true Inferred relationship Some
Oculo-auriculo-vertebral spectrum Finding site Bone structure of cranium true Inferred relationship Some 1
Oculo-auriculo-vertebral spectrum Associated morphology Dysplasia true Inferred relationship Some 1
Oculo-auriculo-vertebral spectrum Occurrence Congenital true Inferred relationship Some 1
Oculo-auriculo-vertebral spectrum Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Oculo-auriculo-vertebral spectrum Finding site Bone structure of face true Inferred relationship Some 2
Oculo-auriculo-vertebral spectrum Associated morphology Hypoplasia true Inferred relationship Some 2
Oculo-auriculo-vertebral spectrum Occurrence Congenital true Inferred relationship Some 2
Oculo-auriculo-vertebral spectrum Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Oculo-auriculo-vertebral spectrum Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Oculo-auriculo-vertebral spectrum Is a Congenital anomaly of spine true Inferred relationship Some
Oculo-auriculo-vertebral spectrum Is a Disorder of vertebral column (disorder) true Inferred relationship Some
Oculo-auriculo-vertebral spectrum Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Oculo-auriculo-vertebral spectrum Finding site Structure of vertebral column (body structure) true Inferred relationship Some 3
Oculo-auriculo-vertebral spectrum Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Oculo-auriculo-vertebral spectrum Occurrence Congenital true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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