238054000: Homozygous acute intermittent porphyria (disorder)

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Acute intermittent porphyria\Homozygous acute intermittent porphyria

\Metabolic disease\Chronic metabolic disorder\Acute intermittent porphyria\Homozygous acute intermittent porphyria
\Metabolic disease\Disorder of porphyrin metabolism\Porphyria (disorder)\Acute intermittent porphyria\Homozygous acute intermittent porphyria
\Metabolic disease\Disorder of porphyrin metabolism\Porphobilinogen deaminase deficiency\Acute intermittent porphyria\Homozygous acute intermittent porphyria

\Chronic disease\Chronic metabolic disorder\Acute intermittent porphyria\Homozygous acute intermittent porphyria

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

356834015 Homozygous acute intermittent porphyria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626883010 Homozygous acute intermittent porphyria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5021701000241115 porphyrie aigue intermittente homozygote fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Homozygous acute intermittent porphyria	Is a	Acute intermittent porphyria	true	Inferred relationship	Some
Homozygous acute intermittent porphyria	Finding site	Body system structure	false	Inferred relationship	Some
Homozygous acute intermittent porphyria	Occurrence	Congenital	false	Inferred relationship	Some
Homozygous acute intermittent porphyria	Course	Intermittent	false	Inferred relationship	Some
Homozygous acute intermittent porphyria	Clinical course	Intermittent	true	Inferred relationship	Some	1

Inbound Relationships

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Active

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Characteristic

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Reference Sets