124215008: deficiëntie van fenylalanine 4-mono-oxygenase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of phenylalanine 4-monooxygenase

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

203784016 Deficiency of phenylalanine 4-hydroxylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203785015 Deficiency of phenylalaninase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203786019 Deficiency of phenylalanine 4-monooxygenase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727719019 Deficiency of phenylalanine 4-monooxygenase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

11364081000146116 deficiëntie van fenylalaninase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11698691000146112 deficiëntie van fenylalanine 4-mono-oxygenase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11698701000146112 deficiëntie van fenylalanine 4-mono-oxygenase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11698711000146114 deficiëntie van fenylalanine 4-hydroxylase 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
Deficiency of phenylalanine 4-monooxygenase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of phenylalanine 4-monooxygenase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

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Active

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Characteristic

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This concept is not in any reference sets