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773667003: Hypertelorism, preauricular sinus, punctual pits, deafness 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
3725585011 Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725586012 Hypertelorism, preauricular sinus, punctual pits, deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725587015 HPPD (hypertelorism, preauricular sinus, punctual pits, deafness) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3725588013 Hypertelorism, preauricular sinus, punctual pits, hearing loss syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725589017 A rare developmental defect during embryogenesis syndrome with characteristics of hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported. 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
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) localisation d'une constatation (attribut) Preauricular region structure true Inferred relationship Some 1
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) est un(e) (attribut) Hypertelorism true Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) est un(e) (attribut) Hearing loss associated with syndrome true Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) morphologie associée (attribut) Preauricular sinus (morphologic abnormality) true Inferred relationship Some 1
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) est un(e) (attribut) Preauricular fistula true Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) localisation d'une constatation (attribut) oreille true Inferred relationship Some 3
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) localisation d'une constatation (attribut) structure de l'os sphénoïde (structure corporelle) true Inferred relationship Some 2
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) est un(e) (attribut) affection de l'oreille true Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 4
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) est un(e) (attribut) Congenital hearing disorder true Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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