276265003: deficiëntie van ferrochelatase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\...

\Enzymopathy\Ferrochelatase deficiency

\Disorder of porphyrin metabolism\Ferrochelatase deficiency

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

412335012 Ferrochelatase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

412336013 FECH - Ferrochelatase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

669159017 Ferrochelatase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

7056911000146114 deficiëntie van ferrochelatase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7417001000146111 ferrochelatasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8713191000146111 deficiëntie van ferrochelatase (aandoening) nl Fully specified name 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
Ferrochelatase deficiency	Is a	Disorder of porphyrin and heme metabolism	false	Inferred relationship	Some
Ferrochelatase deficiency	Is a	Enzymopathy	true	Inferred relationship	Some
Ferrochelatase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Ferrochelatase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Ferrochelatase deficiency	Is a	Disorder of porphyrin metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Erythropoietic protoporphyria	Is a	True	Ferrochelatase deficiency	Inferred relationship	Some
Erythropoietic protoporphyria due to ferrochelatase deficiency (disorder)	Due to	True	Ferrochelatase deficiency	Inferred relationship	Some	1
X-gebonden dominante erytropoëtische protoporfyrie	Is a	False	Ferrochelatase deficiency	Inferred relationship	Some

This concept is not in any reference sets