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773692000: Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3725802015 Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725804019 Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725805018 Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725801010 A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3725803013 A rare junctional epidermolysis bullosa subtype characterised by late-onset blistering surrounded by erythema and localised on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3725802015 Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725804019 Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725805018 Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725801010 A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3725803013 A rare junctional epidermolysis bullosa subtype characterised by late-onset blistering surrounded by erythema and localised on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447221001000119 Spät-einsetzende lokalisierte junktionale Epidermolysis bullosa-Intelligenzminderung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
954841000172112 syndrome d'épidermolyse bulleuse jonctionnelle localisée à début tardif-déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
954841000172112 syndrome d'épidermolyse bulleuse jonctionnelle localisée à début tardif-déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3447221001000119 Spät-einsetzende lokalisierte junktionale Epidermolysis bullosa-Intelligenzminderung-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
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Is a Hereditary disorder of the integument (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Finding site Connective tissue structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Associated morphology Epidermolysis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Is a Congenital anomaly of tooth (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Is a Disorder of hard tissues of teeth (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Is a Localised junctional epidermolysis bullosa true Inferred relationship Existential restriction modifier (core metadata concept)
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Finding site Enamel structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Is a Amelogenesis imperfecta (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 4
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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