Code System Concept

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Code System Concept

Code System Concept Code	64081000
Code System Concept Name	Porphobilinogen synthase deficiency (disorder)
Code System Preferred Concept Name	Porphobilinogen synthase deficiency (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	01/31/2002
SDO Date Created	01/31/2002
SDO Date Revised	01/31/2002
Description
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
106510013	Porphobilinogen synthase deficiency	Active	Synonym	false	false
106511012	ALA dehydratase deficiency porphyria	Active	Synonym	false	false
106512017	ALAD deficiency	Active	Synonym	false	false
106513010	ALADH deficiency	Active	Synonym	false	false
106514016	delta-Aminolevulinate dehydrase deficiency	Active	Synonym	false	false
106515015	Hereditary delta-aminolevulinic aciduria	Active	Synonym	false	false
106516019	delta-Aminolevulinic acid dehydratase deficiency	Active	Synonym	false	false
199221019	Acute hepatic porphyria	Active	Synonym	false	false
499752016	ALA - Aminolevulinic acid dehydratase deficiency porphyria	Active	Synonym	false	false
499753014	Delta-aminolevulinate dehydrase deficiency	Active	Synonym	false	false
499754015	ALA - Aminolaevulinic acid dehydratase deficiency porphyria	Active	Synonym	false	false
499755019	Delta-aminolaevulinate dehydrase deficiency	Active	Synonym	false	false
499756018	delta-Aminolaevulinate dehydrase deficiency	Active	Synonym	false	false
499757010	delta-Aminolaevulinic acid dehydratase deficiency	Active	Synonym	false	false
5285655011	Porphyria due to delta-aminolevulinate dehydratase deficiency	Active	Synonym	false	false
5285656012	Porphyria of Doss	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Birth Defect Diagnosis	1
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7 , 6 , 5 , 4 , 3 , 2 , 1
Problem Value Set	3 , 2

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Congenital porphyria (disorder) {190913009 , SNOMED-CT } Disorder of porphyrin metabolism (disorder) {29094004 , SNOMED-CT } Enzymopathy (disorder) {78548001 , SNOMED-CT } Inborn error of metabolism (disorder) {86095007 , SNOMED-CT } Porphyria (disorder) {86292002 , SNOMED-CT } Specific enzyme deficiency (disorder) {129456006 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,