724040000: deficiëntie van S-adenosylhomocysteïnehydrolase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of S-adenosylhomocysteine hydrolase (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3429212017 Deficiency of S-adenosylhomocysteine hydrolase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3429213010 S-adenosylhomocysteine hydrolase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3429214016 Deficiency of S-adenosylhomocysteine hydrolase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

6869111000146112 S-adenosylhomocysteïnehydrolasedeficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6869131000146117 deficiëntie van S-adenosylhomocysteïnehydrolase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7149411000146115 tekort aan S-adenosylhomocysteïnehydrolase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8277111000146111 AHCY-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8305651000146111 deficiëntie van S-adenosylhomocysteïnehydrolase (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 S-adenosylhomocysteine hydrolase (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)	Due to	True	Deficiency of S-adenosylhomocysteine hydrolase (disorder)	Inferred relationship	Some	1

This concept is not in any reference sets