403832004: hereditaire stoornis van metabolisme van porfyrinen (aandoening)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism (disorder)

\Metabolic disease\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism (disorder)
\Metabolic disease\Disorder of porphyrin metabolism\Inherited disorder of porphyrin metabolism (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1771758010 Inherited disorder of porphyrin metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1782836013 Inherited disorder of porphyrin metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

7060041000146118 hereditaire stofwisselingsstoornis van porfyrine nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7060291000146117 hereditaire stoornis van porfyrinemetabolisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7686191000146116 hereditaire metabole stoornis van porfyrine nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7988041000146110 hereditaire stoornis van metabolisme van porfyrinen (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8004271000146116 hereditaire stoornis van metabolisme van porfyrinen 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
Inherited disorder of porphyrin metabolism (disorder)	Is a	Disorder of porphyrin metabolism	true	Inferred relationship	Some
Inherited disorder of porphyrin metabolism (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Inherited disorder of porphyrin metabolism (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Inherited disorder of porphyrin metabolism (disorder)	Is a	Hereditary disease	false	Inferred relationship	Some
Inherited disorder of porphyrin metabolism (disorder)	Is a	Hereditary metabolic disease	true	Inferred relationship	Some
Inherited disorder of porphyrin metabolism (disorder)	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
hereditaire sideroblastische anemie	Is a	False	Inherited disorder of porphyrin metabolism (disorder)	Inferred relationship	Some
Congenital porphyria	Is a	True	Inherited disorder of porphyrin metabolism (disorder)	Inferred relationship	Some
X-linked sideroblastic anemia with spinocerebellar ataxia	Is a	False	Inherited disorder of porphyrin metabolism (disorder)	Inferred relationship	Some
X chromosome-linked sideroblastic anemia	Is a	True	Inherited disorder of porphyrin metabolism (disorder)	Inferred relationship	Some

This concept is not in any reference sets