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763279007: Facial dysmorphism, conductive hearing loss, heart defect syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1013361000241112 syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3638377014 Facial dysmorphism, conductive hearing loss, heart defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3638378016 Tyshchenko syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3638379012 Facial dysmorphism, conductive hearing loss, heart defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3638380010 Dysmorphism, conductive hearing loss, heart defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3638381014 A rare multiple congenital anomalies syndrome with characteristics of distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid's bow upper lip vermilion and small, low-set, posteriorly rotated ears), cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability. 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
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 4
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque est un(e) (attribut) maladie cardiaque congénitale true Inferred relationship Some
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque est un(e) (attribut) Congenital conductive hearing loss true Inferred relationship Some
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque interprète (attribut) entité observable fonctionnelle false Inferred relationship Some
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque a pour interprétation (attribut) Decreased true Inferred relationship Some 2
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 2
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque survenue (attribut) congénital true Inferred relationship Some 4
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque survenue (attribut) congénital true Inferred relationship Some 3
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque survenue (attribut) congénital true Inferred relationship Some 1
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque localisation d'une constatation (attribut) face true Inferred relationship Some 3
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque localisation d'une constatation (attribut) oreille true Inferred relationship Some 1
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque localisation d'une constatation (attribut) cœur true Inferred relationship Some 4

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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