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78494001: Amelogenesis imperfecta (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
130245014 Amelogenesis imperfecta en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
130246010 Congenital enamel hypoplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
468541000241118 amélogenèse imparfaite (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
503854013 AI - Amelogenesis imperfecta en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
819440011 Amelogenesis imperfecta (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
872431000172115 amélogenèse imparfaite fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)


22 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Amelogenesis imperfecta morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Amelogenesis imperfecta Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Amelogenesis imperfecta est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Amelogenesis imperfecta est un(e) (attribut) Hereditary disorder of tooth true Inferred relationship Some
Amelogenesis imperfecta est un(e) (attribut) Congenital anomaly of digestive tract false Inferred relationship Some
Amelogenesis imperfecta est un(e) (attribut) Congenital malformation false Inferred relationship Some
Amelogenesis imperfecta est un(e) (attribut) Congenital anomaly of teeth false Inferred relationship Some
Amelogenesis imperfecta survenue (attribut) congénital false Inferred relationship Some
Amelogenesis imperfecta est un(e) (attribut) Hereditary or idiopathic disturbance of tooth structure false Inferred relationship Some
Amelogenesis imperfecta est un(e) (attribut) Enamel hypoplasia false Inferred relationship Some
Amelogenesis imperfecta est un(e) (attribut) Congenital anomaly of tooth (disorder) true Inferred relationship Some
Amelogenesis imperfecta est un(e) (attribut) Congenital anomaly of jaw false Inferred relationship Some
Amelogenesis imperfecta morphologie associée (attribut) Hypoplasia (morphologic abnormality) false Inferred relationship Some 2
Amelogenesis imperfecta localisation d'une constatation (attribut) Enamel structure true Inferred relationship Some 1
Amelogenesis imperfecta morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
Amelogenesis imperfecta localisation d'une constatation (attribut) Enamel structure false Inferred relationship Some 2
Amelogenesis imperfecta est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
Amelogenesis imperfecta est un(e) (attribut) Disorder of hard tissues of teeth (disorder) true Inferred relationship Some
Amelogenesis imperfecta survenue (attribut) congénital false Inferred relationship Some 3
Amelogenesis imperfecta morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Amelogenesis imperfecta localisation d'une constatation (attribut) Structure of hard tissue of tooth false Inferred relationship Some 3
Amelogenesis imperfecta localisation d'une constatation (attribut) Enamel structure false Inferred relationship Some 1
Amelogenesis imperfecta survenue (attribut) congénital true Inferred relationship Some 1
Amelogenesis imperfecta localisation d'une constatation (attribut) Structure of hard tissue of tooth false Inferred relationship Some 1
Amelogenesis imperfecta localisation d'une constatation (attribut) structure de la région de la mâchoire (structure corporelle) false Inferred relationship Some
Amelogenesis imperfecta morphologie associée (attribut) Congenital hypoplasia false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) est un(e) (attribut) True Amelogenesis imperfecta Inferred relationship Some
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) est un(e) (attribut) True Amelogenesis imperfecta Inferred relationship Some
Stimmler syndrome est un(e) (attribut) True Amelogenesis imperfecta Inferred relationship Some
Amelogenesis imperfecta, hypocalcification type est un(e) (attribut) True Amelogenesis imperfecta Inferred relationship Some
Amelogenesis imperfecta, hypomaturation type est un(e) (attribut) True Amelogenesis imperfecta Inferred relationship Some
Amelogenesis imperfecta, hypoplastic type est un(e) (attribut) True Amelogenesis imperfecta Inferred relationship Some
syndrome amélogenèse imparfaite-néphrocalcinose est un(e) (attribut) True Amelogenesis imperfecta Inferred relationship Some
Kohlschutter's syndrome est un(e) (attribut) True Amelogenesis imperfecta Inferred relationship Some
Agenesis of enamel est un(e) (attribut) True Amelogenesis imperfecta Inferred relationship Some
Amelogenesis imperfecta co-occurrent with cone rod dystrophy est un(e) (attribut) True Amelogenesis imperfecta Inferred relationship Some
Amelogenesis imperfecta and gingival hyperplasia syndrome (disorder) est un(e) (attribut) True Amelogenesis imperfecta Inferred relationship Some
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) est un(e) (attribut) True Amelogenesis imperfecta Inferred relationship Some
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) est un(e) (attribut) True Amelogenesis imperfecta Inferred relationship Some

This concept is not in any reference sets

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