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Terminology chevron_right Concepts chevron_right 64081000

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Component

64081000

The component that hold information about this concept.

Fully Specified Name (FSN)

Porphobilinogen synthase deficiency (disorder)

Shortest Term

Alad deficiency

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Porphobilinogen synthase deficiency (disorder)

SCTID: 64081000, Primitive, Active

64081000|Porphobilinogen synthase deficiency (disorder)|

en Porphyria due to delta-aminolevulinate dehydratase deficiency
en Porphyria of doss
en Acute hepatic porphyria
en Delta-aminolaevulinate dehydrase deficiency
en Delta-aminolevulinate dehydrase deficiency
en Hereditary delta-aminolevulinic aciduria
en Porphobilinogen synthase deficiency
en Porphobilinogen synthase deficiency (disorder)
en Alad deficiency
en Ala dehydratase deficiency porphyria
en Aladh deficiency

Expression

64081000 |Porphobilinogen synthase deficiency (disorder)|
 <<< 85995004 |Autosomal recessive hereditary disorder (disorder)| + 
129456006 |Specific enzyme deficiency (disorder)| + 
86095007 |Inborn error of metabolism (disorder)| + 
190913009 |Congenital porphyria (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
499754015 - ALA - Aminolaevulinic acid dehydratase deficiency porphyria (en) View
499754015	en	Synonym (core metadata concept)	ALA - Aminolaevulinic acid dehydratase deficiency porphyria	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
499752016 - ALA - Aminolevulinic acid dehydratase deficiency porphyria (en) View
499752016	en	Synonym (core metadata concept)	ALA - Aminolevulinic acid dehydratase deficiency porphyria	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
499756018 - delta-Aminolaevulinate dehydrase deficiency (en) View
499756018	en	Synonym (core metadata concept)	delta-Aminolaevulinate dehydrase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
499757010 - delta-Aminolaevulinic acid dehydratase deficiency (en) View
499757010	en	Synonym (core metadata concept)	delta-Aminolaevulinic acid dehydratase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
106514016 - delta-Aminolevulinate dehydrase deficiency (en) View
106514016	en	Synonym (core metadata concept)	delta-Aminolevulinate dehydrase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
106516019 - delta-Aminolevulinic acid dehydratase deficiency (en) View
106516019	en	Synonym (core metadata concept)	delta-Aminolevulinic acid dehydratase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
5285655011 - Porphyria due to delta-aminolevulinate dehydratase deficiency (en) View
5285655011	en	Synonym (core metadata concept)	Porphyria due to delta-aminolevulinate dehydratase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
5285656012 - Porphyria of Doss (en) View
5285656012	en	Synonym (core metadata concept)	Porphyria of Doss	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
199221019 - Acute hepatic porphyria (en) View
199221019	en	Synonym (core metadata concept)	Acute hepatic porphyria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
499755019 - Delta-aminolaevulinate dehydrase deficiency (en) View
499755019	en	Synonym (core metadata concept)	Delta-aminolaevulinate dehydrase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
499753014 - Delta-aminolevulinate dehydrase deficiency (en) View
499753014	en	Synonym (core metadata concept)	Delta-aminolevulinate dehydrase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
106515015 - Hereditary delta-aminolevulinic aciduria (en) View
106515015	en	Synonym (core metadata concept)	Hereditary delta-aminolevulinic aciduria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
106510013 - Porphobilinogen synthase deficiency (en) View
106510013	en	Synonym (core metadata concept)	Porphobilinogen synthase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
803435015 - Porphobilinogen synthase deficiency (disorder) (en) View
803435015	en	Fully specified name (core metadata concept)	Porphobilinogen synthase deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
106512017 - ALAD deficiency (en) View
106512017	en	Synonym (core metadata concept)	ALAD deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
106511012 - ALA dehydratase deficiency porphyria (en) View
106511012	en	Synonym (core metadata concept)	ALA dehydratase deficiency porphyria	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
106513010 - ALADH deficiency (en) View
106513010	en	Synonym (core metadata concept)	ALADH deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (833772022) - 64081000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1679607028) - 64081000 -> 29094004 (116680003) View
116680003 \|Is a (attribute)\|	29094004 \|Disorder of porphyrin metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2842660022) - 64081000 -> 190913009 (116680003) View
116680003 \|Is a (attribute)\|	190913009 \|Congenital porphyria (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2771530025) - 64081000 -> 86095007 (116680003) View
116680003 \|Is a (attribute)\|	86095007 \|Inborn error of metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (252360021) - 64081000 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (833771026) - 64081000 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2549534028) - 64081000 -> 129456006 (116680003) View
116680003 \|Is a (attribute)\|	129456006 \|Specific enzyme deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (252359027) - 64081000 -> 86292002 (116680003) View
116680003 \|Is a (attribute)\|	86292002 \|Porphyria (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (252358024) - 64081000 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
190913009 View
190913009	Congenital porphyria (disorder)	Congenital porphyria	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
86095007 View
86095007	Inborn error of metabolism (disorder)	Inborn error of metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
129456006 View
129456006	Specific enzyme deficiency (disorder)	Specific enzyme deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (b357f577-b4b2-51d3-8883-21f8dcd6da25) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E80.2	TRUE	ALWAYS E80.2	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

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