276262000: deficiëntie van uroporfyrinogeendecarboxylase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of porphyrin metabolism\Uroporphyrinogen decarboxylase 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

412329012 Uroporphyrinogen decarboxylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

669156012 Uroporphyrinogen decarboxylase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

7063261000146117 deficiëntie van uroporfyrinogeendecarboxylase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7063271000146111 deficiëntie van uroporfyrinogeendecarboxylase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7063281000146113 uroporfyrinogeendecarboxylasedeficiëntie 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
Uroporphyrinogen decarboxylase deficiency	Is a	Disorder of porphyrin and heme metabolism	false	Inferred relationship	Some
Uroporphyrinogen decarboxylase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Uroporphyrinogen decarboxylase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Uroporphyrinogen decarboxylase deficiency	Is a	Disorder of porphyrin metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Porphyria cutanea tarda	Is a	True	Uroporphyrinogen decarboxylase deficiency	Inferred relationship	Some

This concept is not in any reference sets