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722284009: Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3331431016 Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331432011 Hypoplasia and coloboma of alar cartilage with telecanthus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331433018 Alar cartilage hypoplasia, coloboma, telecanthus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402874011 A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402875012 A very rare dysmorphic disorder characterised by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331431016 Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331431016 Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331432011 Hypoplasia and coloboma of alar cartilage with telecanthus syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331432011 Hypoplasia and coloboma of alar cartilage with telecanthus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331433018 Alar cartilage hypoplasia, coloboma, telecanthus syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331433018 Alar cartilage hypoplasia, coloboma, telecanthus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331434012 A very rare dysmorphic disorder with characteristics of hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402874011 A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402875012 A very rare dysmorphic disorder characterised by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3409411001000112 Flügelknorpel-Hypoplasie-Kolobom-Telekanthus-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6286011000241114 syndrome de fente narinaire, colobome et télécanthus fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6286021000241119 syndrome d'hypoplasie et colobome du cartilage alaire avec télécanthus fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6286011000241114 syndrome de fente narinaire, colobome et télécanthus fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6286021000241119 syndrome d'hypoplasie et colobome du cartilage alaire avec télécanthus fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3409411001000112 Flügelknorpel-Hypoplasie-Kolobom-Telekanthus-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Is a Congenital anomaly of cartilage true Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Is a Congenital anomaly of eyelid true Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Is a Congenital hypoplasia of nose true Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Is a Telecanthus (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Is a Disorder of soft tissue of head (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Is a Connective tissue hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Associated morphology Congenital failure of fusion false Inferred relationship Existential restriction modifier (core metadata concept) 5
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Finding site Alar cartilage structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Associated morphology Hypoplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Finding site Alar cartilage structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Finding site Structure of palpebral fissure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Finding site Alar cartilage structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Is a Lesion of nose false Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Is a Lesion of soft tissue (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Finding site Structure of palpebral fissure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Is a fente nasale congénitale true Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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