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1260203008: Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
5159717013 Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5159718015 EVEN-plus syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5159719011 Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5159720017 EVEN (epiphyseal, vertebral, ear dysplasia, nose) plus associated findings syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5159725010 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares or anteverted nares). Additional variable findings include short stature, localised aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum and cardiac, gastrointestinal and/or urogenital malformations among others. Psychomotor development may be delayed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5159726011 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum and cardiac, gastrointestinal and/or urogenital malformations among others. Psychomotor development may be delayed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5784721000052117 EVEN-plussyndromet sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Is a Congenital anomaly of nose true Inferred relationship Some
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Is a Congenital malformation of ear true Inferred relationship Some
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Is a Finding of vertebra true Inferred relationship Some
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Is a Disorder of vertebral column (disorder) true Inferred relationship Some
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Is a Congenital anomaly of spine true Inferred relationship Some
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Finding site Bone structure of vertebra true Inferred relationship Some 1
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Finding site Structure of epiphysis true Inferred relationship Some 2
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Finding site Ear structure true Inferred relationship Some 3
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Finding site Nasal structure true Inferred relationship Some 4
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Is a Chronic disease of ear true Inferred relationship Some
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Is a Epiphyseal dysplasia true Inferred relationship Some
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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