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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

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
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
3424259014 Syndrome that combines the features of macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It is described in nine members of a Brazilian family. It is a phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (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
602501000274117 Syndrom mit Makrostomie, präaurikulären Anhängseln und externer Ophthalmoplegie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3386371001000110 Makrostomie - präaurikuläre Anhängsel - externe Ophthalmoplegie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6336411000241118 syndrome de macrostomie, anomalies préauriculaires et ophtalmoplégie externe fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6336411000241118 syndrome de macrostomie, anomalies préauriculaires et ophtalmoplégie externe fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
602501000274117 Syndrom mit Makrostomie, präaurikulären Anhängseln und externer Ophthalmoplegie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3386371001000110 Makrostomie - präaurikuläre Anhängsel - externe Ophthalmoplegie 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
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a External ophthalmoplegia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a Neoplasm of skin of ear (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a Skin tag (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a Benign neoplasm of external ear (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a Congenital abnormality of oral cavity true Inferred relationship Existential restriction modifier (core metadata concept)
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a Benign neoplasm of skin of head and neck false Inferred relationship Existential restriction modifier (core metadata concept)
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a Auditory system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a Mass of preauricular region (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Finding site Eye region structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Associated morphology Fibroepithelial polyp false Inferred relationship Existential restriction modifier (core metadata concept) 4
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Finding site Skin structure of preauricular region false Inferred relationship Existential restriction modifier (core metadata concept) 4
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Finding site Structure of internal part of mouth false Inferred relationship Existential restriction modifier (core metadata concept) 5
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a Benign neoplasm of skin of face true Inferred relationship Existential restriction modifier (core metadata concept)
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a Congenital anomaly of skin (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a Congenital anomaly of face (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Finding site Skin structure of preauricular region true Inferred relationship Existential restriction modifier (core metadata concept) 1
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Associated morphology Fibroepithelial polyp true Inferred relationship Existential restriction modifier (core metadata concept) 1
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Finding site Structure of internal part of mouth true Inferred relationship Existential restriction modifier (core metadata concept) 2
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Finding site Structure of extraocular muscle true Inferred relationship Existential restriction modifier (core metadata concept) 4
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 6
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 5
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 5
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a Disorder involving the integument of fetus OR newborn true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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