124248008: deficiëntie van aspartaatcarbamoyltransferase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of aspartate carbamoyltransferase

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

203836019 Deficiency of carbamylaspartotranskinase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203837011 Deficiency of aspartate transcarbamylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203838018 Deficiency of aspartate carbamoyltransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727797016 Deficiency of aspartate carbamoyltransferase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6838021000146115 deficiëntie van aspartaatcarbamoyltransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9751371000146115 deficiëntie van aspartaatcarbamoyltransferase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11249831000146111 deficiëntie van carbamylaspartotranskinase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11249841000146115 deficiëntie van aspartaattranscarbamylase 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 aspartate carbamoyltransferase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of aspartate carbamoyltransferase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets