124346009: deficiëntie van riboflavinemononucleotideadenylyltransferase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of riboflavin mononucleotide adenylyltransferase (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

204095014 Deficiency of FAD pyrophosphorylase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

204096010 Deficiency of FMN adenylyltransferase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2913723015 Deficiency of riboflavin mononucleotide adenylyltransferase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2914157010 Deficiency of riboflavin mononucleotide adenylyltransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6832961000146111 deficiëntie van riboflavinemononucleotideadenylyltransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8234691000146115 deficiëntie van FMN-adenylyltransferase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9738291000146118 deficiëntie van riboflavinemononucleotideadenylyltransferase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11364351000146112 deficiëntie van FAD-pyrofosforylase 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
Deficiency of riboflavin mononucleotide adenylyltransferase (disorder)	Is a	Deficiency of transferase (disorder)	true	Inferred relationship	Some
Deficiency of riboflavin mononucleotide adenylyltransferase (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