709282004: Deficiency of aminoacylase 1 (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inherited aminoaciduria\Deficiency of aminoacylase 1 (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deficiency of aminoacylase 1 (disorder)

\Metabolic disease\Hereditary metabolic disease\Inherited aminoaciduria\Deficiency of aminoacylase 1 (disorder)
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Aminoaciduria\Inherited aminoaciduria\Deficiency of aminoacylase 1 (disorder)
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of aminoacylase 1 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3039263012 Aminoacylase 1 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3039345014 Deficiency of aminoacylase 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3039364015 Deficiency of aminoacylase 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

10630831000172117 déficit en aminoacylase 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4134601000172117 deficiënte van aminoacylase 1 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4134611000172119 aminoacylase-1-deficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of aminoacylase 1 (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Deficiency of aminoacylase 1 (disorder)	Has definitional manifestation	Aminoaciduria	false	Inferred relationship	Some
Deficiency of aminoacylase 1 (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of aminoacylase 1 (disorder)	Is a	Inherited aminoaciduria	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets