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723554006: Aplasia cutis congenita with epibulbar dermoid syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3425088014 Oculoectodermal syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425089018 Toriello Lacassie Droste syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425092019 Aplasia cutis congenita with epibulbar dermoid syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425093012 Aplasia cutis congenita with epibulbar dermoid syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403106017 A rare ectodermal dysplasia characterized by the association of epibulbar dermoids and aplasia cutis congenital. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403107014 A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425088014 Oculoectodermal syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425089018 Toriello Lacassie Droste syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425092019 Aplasia cutis congenita with epibulbar dermoid syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425093012 Aplasia cutis congenita with epibulbar dermoid syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425090010 Syndrome that is characterized by the association of epibulbar dermoids and aplasia cutis congenital. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425091014 Syndrome that is characterised by the association of epibulbar dermoids and aplasia cutis congenital. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403106017 A rare ectodermal dysplasia characterized by the association of epibulbar dermoids and aplasia cutis congenital. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403107014 A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
650991000274113 Aplasia cutis congenita mit epibulbären Dermoid de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3442831001000118 Toriello-Lacassie-Droste-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5787021000241114 aplasie congénitale de la peau associée à un syndrome dermoïde épibulbaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5787031000241111 aplasie cutanée congénitale associée à un syndrome dermoïde épibulbaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5787041000241118 ACC (aplasia cutis congenita) associée à un syndrome dermoïde épibulbaire fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5787021000241114 aplasie congénitale de la peau associée à un syndrome dermoïde épibulbaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5787031000241111 aplasie cutanée congénitale associée à un syndrome dermoïde épibulbaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5787041000241118 ACC (aplasia cutis congenita) associée à un syndrome dermoïde épibulbaire fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
650991000274113 Aplasia cutis congenita mit epibulbären Dermoid de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3442831001000118 Toriello-Lacassie-Droste-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
A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. Is a Autosomal hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. Is a Congenital anomaly of eye false Inferred relationship Existential restriction modifier (core metadata concept)
A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. Is a Aplasia cutis congenita (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. Is a Dermoid choristoma of eye proper false Inferred relationship Existential restriction modifier (core metadata concept)
A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. Finding site Skin part (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. Associated morphology Dermoid choristoma false Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. Finding site Eye structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. Associated morphology Dermoid choristoma false Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. Finding site Eye structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. Is a Dermoid cyst of eye proper true Inferred relationship Existential restriction modifier (core metadata concept)
A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. Associated morphology Dermoid cyst true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. Associated morphology Aplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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