Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3331811010 | Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3331812015 | Congenital hereditary facial paralysis with variable hearing loss syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3331813013 | Congenital hereditary facial palsy with variable deafness | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5402911010 | Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402912015 | Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterised by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3331811010 | Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3331811010 | Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3331812015 | Congenital hereditary facial paralysis with variable hearing loss syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3331812015 | Congenital hereditary facial paralysis with variable hearing loss syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3331813013 | Congenital hereditary facial palsy with variable deafness | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3331813013 | Congenital hereditary facial palsy with variable deafness | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3331814019 | An extremely rare autosomal recessive disorder with characteristics of bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears) and strabismus. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402911010 | Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402912015 | Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterised by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
602131000274118 | Angeborene Gesichtslähmung mit variabler Schwerhörigkeit | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3394291001000114 | Kongenitale hereditäre Fazialisparese mit variablem Hörverlust | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
915941000172114 | syndrome de paralysie faciale congénitale héréditaire-surdité variable | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
915941000172114 | syndrome de paralysie faciale congénitale héréditaire-surdité variable | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
602131000274118 | Angeborene Gesichtslähmung mit variabler Schwerhörigkeit | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3394291001000114 | Kongenitale hereditäre Fazialisparese mit variablem Hörverlust | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Is a | Sensorineural hearing loss | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Is a | Congenital strabismus | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Is a | Congenital hearing disorder | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Is a | Facial palsy | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Is a | Auditory system hereditary disorder | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Is a | Hereditary disorder of nervous system (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Finding site | Facial nerve structure | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 6 | |
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 5 | |
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Interprets | Hearing | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 4 | |
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Interprets | entité observable fonctionnelle | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Associated morphology | anomalie du développement | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 6 | |
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 6 | |
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Associated morphology | anomalie du développement | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 7 | |
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 7 | |
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Finding site | Eye region structure | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 6 | |
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Finding site | Face structure (body structure) | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 7 | |
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Has interpretation | Absent | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Interprets | Gross movement of body and limbs (observable entity) | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Finding site | Face structure (body structure) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Finding site | Eye region structure | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Interprets | Movement | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 7 | |
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. | Interprets | Movement observable | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)