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783774006: syndroom van atresie van uitwendige gehoorgang, verticaal sprongbeen en hypertelorisme (aandoening)


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
8680151000146115 syndroom van atresie van uitwendige gehoorgang, verticaal sprongbeen en hypertelorisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8680161000146117 syndroom van atresie van meatus acusticus externus, verticale talus en hypertelorisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8680171000146111 syndroom van atresie van uitwendige gehoorgang, verticaal sprongbeen en hypertelorisme (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
9122841000146116 syndroom van Rasmussen-Johnsen-Thomsen nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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) Associated morphology atresie (afwijkende morfologie) false Inferred relationship Some 3
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Is a 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) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Is a Congenital deformity of foot and ankle false Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Finding site Sphenoid bone structure true Inferred relationship Some 2
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Is a Hypertelorism true Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Finding site External auditory canal structure true Inferred relationship Some 3
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Occurrence Congenital 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) Is a Congenital valgus deformity of foot false Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Is a 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) Is a Congenital atresia of external auditory canal true Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Is a 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) Occurrence Congenital true Inferred relationship Some 2
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Finding site Ankle region structure true Inferred relationship Some 4
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Associated morphology Deformity true Inferred relationship Some 4
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Finding site Foot structure true Inferred relationship Some 1
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Associated morphology Valgus deformity true Inferred relationship Some 1
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Is a Congenital anomaly of bone and joint true Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Associated morphology Dorsal dislocation true Inferred relationship Some 5
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Finding site Structure of talonavicular joint (body structure) 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) Occurrence Congenital true Inferred relationship Some 5
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Finding site Structure of longitudinal arch of foot true Inferred relationship Some 6
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Associated morphology Flattening deformity true Inferred relationship Some 6
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Occurrence Congenital 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
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Associated morphology Atresia (morphologic abnormality) true Inferred relationship Some 3
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Is a Congenital talipes valgus (disorder) false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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