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

718759003: Lissencephaly due to tubulin alpha 1A mutation (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3313759018 Lissencephaly due to tubulin alpha 1A mutation (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3313760011 Lissencephaly due to tubulin alpha 1A mutation en Synonym Active Only initial character case insensitive SNOMED CT core module
3313761010 Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation en Synonym Active Only initial character case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lissencephaly due to tubulin alpha 1A mutation Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier
Lissencephaly due to tubulin alpha 1A mutation Is a Lissencephaly true Inferred relationship Existential restriction modifier
Lissencephaly due to tubulin alpha 1A mutation Is a Hereditary disorder of nervous system true Inferred relationship Existential restriction modifier
Lissencephaly due to tubulin alpha 1A mutation Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 2
Lissencephaly due to tubulin alpha 1A mutation Occurrence Congenital false Inferred relationship Existential restriction modifier 2
Lissencephaly due to tubulin alpha 1A mutation Finding site Structure of central nervous system false Inferred relationship Existential restriction modifier 2
Lissencephaly due to tubulin alpha 1A mutation Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 3
Lissencephaly due to tubulin alpha 1A mutation Finding site Brain structure false Inferred relationship Existential restriction modifier 3
Lissencephaly due to tubulin alpha 1A mutation Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Lissencephaly due to tubulin alpha 1A mutation Finding site Brain structure true Inferred relationship Existential restriction modifier 1
Lissencephaly due to tubulin alpha 1A mutation Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Lissencephaly due to tubulin alpha 1A mutation Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Lissencephaly due to tubulin alpha 1A mutation Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start