723366001: Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)

Id Description Lang Type Status Case? Module

3424257011 Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3424258018 Macrostomia, preauricular tag, external ophthalmoplegia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5403022019 A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403023012 A rare developmental defect during embryogenesis characterised by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	External ophthalmoplegia	true	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	Neoplasm of skin of ear	false	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	Skin tag	true	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	Benign neoplasm of external ear (disorder)	false	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	Congenital abnormality of oral cavity	true	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	Benign neoplasm of skin of head and neck	false	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	Auditory system hereditary disorder	false	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	Mass of preauricular region (finding)	true	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	3
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Finding site	Eye region structure (body structure)	false	Inferred relationship	Some	4
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Associated morphology	Fibroepithelial polyp	false	Inferred relationship	Some	4
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Finding site	Skin structure of preauricular region	false	Inferred relationship	Some	4
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	5
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Finding site	Structure of internal part of mouth	false	Inferred relationship	Some	5
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	Benign neoplasm of skin of face	true	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	Congenital anomaly of skin	false	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	Congenital anomaly of face (disorder)	false	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Finding site	Skin structure of preauricular region	true	Inferred relationship	Some	1
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Associated morphology	Fibroepithelial polyp	true	Inferred relationship	Some	1
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Finding site	Structure of internal part of mouth	true	Inferred relationship	Some	2
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Finding site	Structure of extraocular muscle	true	Inferred relationship	Some	4
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Interprets	Movement	true	Inferred relationship	Some	6
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Interprets	Movement observable	true	Inferred relationship	Some	5
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Has interpretation	Absent	true	Inferred relationship	Some	5
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	Disorder involving the integument of fetus OR newborn	true	Inferred relationship	Some

Inbound Relationships

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Characteristic

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Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
3424257011	Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424258018	Macrostomia, preauricular tag, external ophthalmoplegia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403022019	A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403023012	A rare developmental defect during embryogenesis characterised by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core