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773557002: Mandibulofacial dysostosis, macroblepharon, macrostomia 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
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
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
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
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
3438201001000111 Mandibulofaziale Dysostose - Makroblepharon - Makrostomie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
871631000172113 syndrome de dysostose mandibulo-faciale-macroblépharon-macrostomie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
909491000172111 syndrome de macroblépharon, ectropion, hypertélorisme, macrostomie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
871631000172113 syndrome de dysostose mandibulo-faciale-macroblépharon-macrostomie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
909491000172111 syndrome de macroblépharon, ectropion, hypertélorisme, macrostomie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3438201001000111 Mandibulofaziale Dysostose - Makroblepharon - Makrostomie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Is a Hypertelorism true Inferred relationship Existential restriction modifier (core metadata concept)
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Finding site Sphenoid bone structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Is a Lesion of face true Inferred relationship Existential restriction modifier (core metadata concept)
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Is a Congenital anomaly of face bones true Inferred relationship Existential restriction modifier (core metadata concept)
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Is a Sphenoidal dysostosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Finding site Bone structure of face false Inferred relationship Existential restriction modifier (core metadata concept) 1
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Finding site Bone structure of face true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Finding site Sphenoid bone structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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