FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.24  |  FHIR Version n/a  User: [n/a]

1254651003: Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Oct 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
5142872010 Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
5142873017 Microcephaly, intellectual disability, sensorineural deafness, epilepsy, abnormal muscle tone syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
5142874011 Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome en Synonym Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Is a Decreased hearing true Inferred relationship Existential restriction modifier
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Is a Congenital microcephaly true Inferred relationship Existential restriction modifier
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Is a Global developmental delay true Inferred relationship Existential restriction modifier
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Is a Poor muscle tone true Inferred relationship Existential restriction modifier
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Is a Congenital sensorineural hearing loss true Inferred relationship Existential restriction modifier
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Is a Disorder of skeletal muscle true Inferred relationship Existential restriction modifier
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Interprets Hearing, function true Inferred relationship Existential restriction modifier 4
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Has interpretation Decreased true Inferred relationship Existential restriction modifier 4
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 5
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 5
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 6
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 6
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Interprets Muscle tone true Inferred relationship Existential restriction modifier 7
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Has interpretation Abnormal true Inferred relationship Existential restriction modifier 7
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Interprets Birth head circumference true Inferred relationship Existential restriction modifier 8
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier 8
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Finding site Head structure true Inferred relationship Existential restriction modifier 1
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Associated morphology Congenital smallness true Inferred relationship Existential restriction modifier 1
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier 2
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Finding site Structure of auditory system true Inferred relationship Existential restriction modifier 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start