FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

718103001: Hereditary geniospasm (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3310457019 Hereditary geniospasm (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3310458012 Hereditary geniospasm en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311096010 Familial trembling of chin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311180014 Hereditary chin trembling en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311181013 A movement disorder with manifestation of episodes of involuntary tremor of the chin and lower lip. The disorder has been described in less than 25 families from Europe and the USA, with a slight male preponderance. Onset usually occurs in childhood and may be precipitated by stress and emotion. Episodes may occur during sleep. There are no associated neurological abnormalities. Spontaneous improvement with age is possible. Inheritance is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary geniospasm (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Hereditary geniospasm (disorder) Is a Movement disorder true Inferred relationship Some
Hereditary geniospasm (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Hereditary geniospasm (disorder) Is a Facial nerve disorder (disorder) true Inferred relationship Some
Hereditary geniospasm (disorder) Occurrence Childhood true Inferred relationship Some 1
Hereditary geniospasm (disorder) Finding site Facial nerve structure true Inferred relationship Some 2
Hereditary geniospasm (disorder) Interprets Movement true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start