234422006: 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

\Metabolic disease\Disorder of porphyrin metabolism\...

\Porphyria (disorder)\Acute intermittent porphyria

\Porphobilinogen deaminase deficiency\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

351223014 Acute intermittent porphyria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

351224015 AIP - Acute intermittent porphyria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

351225019 Pyrroloporphyria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

351226018 Acute porphyria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

351227010 Intermittent acute porphyria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

351228017 Swedish porphyria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

351229013 Intermittent acute porphyria syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

622738015 Acute intermittent porphyria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acute intermittent porphyria	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Acute intermittent porphyria	Is a	Porphobilinogen deaminase deficiency	true	Inferred relationship	Some
Acute intermittent porphyria	Finding site	Body system structure	false	Inferred relationship	Some
Acute intermittent porphyria	Occurrence	Congenital	false	Inferred relationship	Some
Acute intermittent porphyria	Is a	Chronic metabolic disorder	false	Inferred relationship	Some
Acute intermittent porphyria	Course	Intermittent	false	Inferred relationship	Some
Acute intermittent porphyria	Is a	Porphyria (disorder)	true	Inferred relationship	Some
Acute intermittent porphyria	Clinical course	Intermittent	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Homozygous acute intermittent porphyria	Is a	True	Acute intermittent porphyria	Inferred relationship	Some

This concept is not in any reference sets