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773557002: syndrome de dysostose mandibulo-faciale-macroblépharon-macrostomie (trouble)


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
3724082014 Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3724083016 Macroblepharon, ectropion, hypertelorism, macrostomia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3724084010 Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
771611000241113 syndrome de dysostose mandibulo-faciale-macroblépharon-macrostomie (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
871631000172113 syndrome de dysostose mandibulo-faciale-macroblépharon-macrostomie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
909491000172111 syndrome de macroblépharon, ectropion, hypertélorisme, macrostomie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3724085011 A rare developmental defect during embryogenesis disorder with characteristics of macroblepharon, ectropion, and facial dysmorphism, which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, and increased density of upper eyelashes, anteverted nares, abnormal dentition and capillary haemangioma. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3724086012 A rare developmental defect during embryogenesis disorder with characteristics of macroblepharon, ectropion, and facial dysmorphism, which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, and increased density of upper eyelashes, anteverted nares, abnormal dentition and capillary hemangioma. 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
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome est un(e) (attribut) Hypertelorism true Inferred relationship Some
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome localisation d'une constatation (attribut) structure de l'os sphénoïde (structure corporelle) false Inferred relationship Some 2
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome survenue (attribut) congénital true Inferred relationship Some 1
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome est un(e) (attribut) Lesion of face (finding) true Inferred relationship Some
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome est un(e) (attribut) Congenital anomaly of face bones true Inferred relationship Some
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome survenue (attribut) congénital true Inferred relationship Some 2
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome est un(e) (attribut) Sphenoidal dysostosis true Inferred relationship Some
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome localisation d'une constatation (attribut) os de la face (structure corporelle) false Inferred relationship Some 1
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome morphologie associée (attribut) dysplasie true Inferred relationship Some 2
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome localisation d'une constatation (attribut) os de la face (structure corporelle) true Inferred relationship Some 2
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome localisation d'une constatation (attribut) structure de l'os sphénoïde (structure corporelle) true Inferred relationship Some 1

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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