12957008: stoornis van metabolisme van fenylalanine (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of phenylalanine metabolism

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

22202017 Disorder of phenylalanine metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

733719014 Disorder of phenylalanine metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6904061000146117 stofwisselingsstoornis van fenylalanine nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7987421000146113 stoornis van metabolisme van fenylalanine (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8034731000146115 stoornis van metabolisme van fenylalanine nl Synonym (core metadata concept) 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
Disorder of phenylalanine metabolism	Is a	Disorder of amino acid metabolism	false	Inferred relationship	Some
Disorder of phenylalanine metabolism	Occurrence	Congenital	false	Inferred relationship	Some
Disorder of phenylalanine metabolism	Finding site	Body system structure	false	Inferred relationship	Some
Disorder of phenylalanine metabolism	Is a	Disorder of amino acid and organic acid metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Disorder of tetrahydrobiopterin metabolism	Is a	True	Disorder of phenylalanine metabolism	Inferred relationship	Some
Maternal phenylketonuria	Is a	True	Disorder of phenylalanine metabolism	Inferred relationship	Some
Hyperphenylalaninemia	Is a	True	Disorder of phenylalanine metabolism	Inferred relationship	Some

This concept is not in any reference sets