124610008: deficiëntie van N-acetylneuraminaatlyase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of N-acetylneuraminate lyase (disorder)

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

204745016 Deficiency of N-acetylneuraminic acid aldolase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

204746015 Deficiency of N-acetylneuraminate lyase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

728326019 Deficiency of N-acetylneuraminate lyase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

6869051000146110 N-acetylneuraminaatlyasedeficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6869061000146113 deficiëntie van N-acetylneuraminaatlyase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7075201000146111 deficiëntie van N-acetylneuraminezuuraldolase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7149401000146117 tekort aan N-acetylneuraminezuurlyase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8643481000146118 deficiëntie van N-acetylneuraminaatlyase (aandoening) nl Fully specified name 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
Deficiency of N-acetylneuraminate lyase (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of N-acetylneuraminate lyase (disorder)	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets