124628005: Deficiency of histidine ammonia-lyase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Deficiency of histidine ammonia-lyase

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deficiency of histidine ammonia-lyase

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Deficiency of histidine ammonia-lyase
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of histidine metabolism\Deficiency of histidine ammonia-lyase
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of histidine ammonia-lyase

\Congenital disease (disorder)\Inborn error of metabolism\Deficiency of histidine ammonia-lyase

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

Descriptions:

Id Description Lang Type Status Case? Module

204812012 Deficiency of histidine a-deaminase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204813019 Deficiency of histidinase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204814013 Deficiency of histidase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204815014 Deficiency of histidine ammonia-lyase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728346012 Deficiency of histidine ammonia-lyase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

789751000052114 brist på histidin-ammoniaklyas sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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	Some
Deficiency of histidine ammonia-lyase	Finding site	Body system structure	false	Inferred relationship	Some
Deficiency of histidine ammonia-lyase	Is a	Disorder of histidine metabolism	true	Inferred relationship	Some
Deficiency of histidine ammonia-lyase	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Deficiency of histidine ammonia-lyase	Occurrence	Congenital	true	Inferred relationship	Some	1
Deficiency of histidine ammonia-lyase	Is a	Inborn error of metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Histidinemia (disorder)	Due to	True	Deficiency of histidine ammonia-lyase	Inferred relationship	Some	1

This concept is not in any reference sets