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783774006: External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder)


Status: current, Not 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
3760319012 External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3760320018 External auditory canal atresia, vertical talus, hypertelorism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3760321019 Rasmussen Johnsen Thomsen syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3760324010 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of the triad: congenital bilateral symmetrical subtotal external auditory canal atresia, bilateral vertical talus and increased interocular distance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) morphologie associée (attribut) Congenital atresia (morphologic abnormality) true Inferred relationship Some 3
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) est un(e) (attribut) Congenital deformity of foot and ankle false Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) localisation d'une constatation (attribut) structure de l'os sphénoïde (structure corporelle) true Inferred relationship Some 2
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) est un(e) (attribut) Hypertelorism true Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) localisation d'une constatation (attribut) méat acoustique externe (structure corporelle) true Inferred relationship Some 3
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) est un(e) (attribut) Congenital valgus deformity of foot false Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) est un(e) (attribut) Congenital vertical talus true Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) est un(e) (attribut) Congenital atresia of external auditory canal true Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) localisation d'une constatation (attribut) région de la cheville (structure corporelle) true Inferred relationship Some 4
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) morphologie associée (attribut) Deformity true Inferred relationship Some 4
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) localisation d'une constatation (attribut) pied (structure corporelle) true Inferred relationship Some 1
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) morphologie associée (attribut) Valgus deformity (morphologic abnormality) true Inferred relationship Some 1
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) est un(e) (attribut) Congenital anomaly of bone and joint true Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) morphologie associée (attribut) Dorsal dislocation true Inferred relationship Some 5
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) localisation d'une constatation (attribut) Structure of talonavicular joint true Inferred relationship Some 5
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 5
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) localisation d'une constatation (attribut) Structure of longitudinal arch of foot true Inferred relationship Some 6
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) morphologie associée (attribut) Flattening deformity true Inferred relationship Some 6
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 6
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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