702440000: cerebraal creatinedeficiëntiesyndroom type III (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Disorder of creatine synthesis\Arginine:glycine amidinotransferase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Arginine:glycine amidinotransferase deficiency

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of creatine synthesis\Arginine:glycine amidinotransferase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of creatine synthesis\Arginine:glycine amidinotransferase deficiency
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of creatine synthesis\Arginine:glycine amidinotransferase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2995041012 Cerebral creatine deficiency syndrome 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995201013 Arginine:glycine amidinotransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995208019 L-arginine:glycine amidinotransferase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2995231019 Creatine deficiency syndrome due to arginine:glycine amidinotransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995424016 Cerebral creatine deficiency syndrome 3 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6987901000146114 cerebraal creatinedeficiëntiesyndroom type III (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6987911000146111 cerebraal creatinedeficiëntiesyndroom type III nl Synonym (core metadata concept) Active Only initial character 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
Arginine:glycine amidinotransferase deficiency	Is a	Disorder of creatine synthesis	true	Inferred relationship	Some
Arginine:glycine amidinotransferase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Arginine:glycine amidinotransferase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets