41013004: argininosuccinaatlyasedeficiëntie (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Argininosuccinate lyase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Argininosuccinate lyase deficiency

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Argininosuccinate lyase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Argininosuccinate lyase deficiency
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of the urea cycle metabolism\Argininosuccinate lyase deficiency
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Argininosuccinate lyase deficiency

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

68418017 Argininosuccinate lyase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

68419013 Argininosuccinic aciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

68420019 ASAL deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

68421015 ASL deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

777754012 Argininosuccinate lyase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2477785019 Deficiency of argininosuccinate lyase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5286199011 ASL-gene related argininosuccinate lyase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

348371000146119 argininosuccinaatlyasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

348381000146117 argininosuccinaatlyasedeficiëntie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Argininosuccinate lyase deficiency	Is a	Enzymopathy	false	Inferred relationship	Some
Argininosuccinate lyase deficiency	Is a	Disorder of the urea cycle metabolism	true	Inferred relationship	Some
Argininosuccinate lyase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Argininosuccinate lyase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Argininosuccinate lyase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Argininosuccinate lyase deficiency	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Argininosuccinate lyase deficiency	Is a	Inborn error of metabolism	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets