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124628005: Deficiency of histidine ammonia-lyase (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
204812012 Deficiency of histidine a-deaminase en Synonym Active Entire term case insensitive SNOMED CT core module
204813019 Deficiency of histidinase en Synonym Active Entire term case insensitive SNOMED CT core module
204814013 Deficiency of histidase en Synonym Active Entire term case insensitive SNOMED CT core module
204815014 Deficiency of histidine ammonia-lyase en Synonym Active Entire term case insensitive SNOMED CT core module
728346012 Deficiency of histidine ammonia-lyase (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deficiency of histidine ammonia-lyase Is a Specific enzyme deficiency true Inferred relationship Existential restriction modifier
Deficiency of histidine ammonia-lyase Finding site Body system structure false Inferred relationship Existential restriction modifier
Deficiency of histidine ammonia-lyase Is a Disorder of histidine metabolism true Inferred relationship Existential restriction modifier
Deficiency of histidine ammonia-lyase Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Deficiency of histidine ammonia-lyase Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Deficiency of histidine ammonia-lyase Is a Inborn error of metabolism true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group
Histidinemia Due to True Deficiency of histidine ammonia-lyase Inferred relationship Existential restriction modifier 1

This concept is not in any reference sets

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