FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3424258018 Macrostomia, preauricular tag, external ophthalmoplegia syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

Back to Start