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Terminology chevron_right Concepts chevron_right 22935002

Production

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Component

22935002

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital erythropoietic porphyria (disorder)

Shortest Term

Gunther's disease

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

Congenital erythropoietic porphyria (disorder)

SCTID: 22935002, Primitive, Active

22935002|Congenital erythropoietic porphyria (disorder)|

en Congenital erythropoietic porphyria
en Congenital erythropoietic porphyria (disorder)
en Congenital photosensitive porphyria
en Haematoporphyria congenita
en Hematoporphyria congenita
en Porphyria erythropoietica
en Cep - congenital erythropoietic porphyria
en Uroporphyrinogen iii synthase deficiency
en Gunther's disease

Expression

22935002 |Congenital erythropoietic porphyria (disorder)|
 <<< 67312003 |Erythropoietic porphyria (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
38524015 - Congenital erythropoietic porphyria (en) View
38524015	en	Synonym (core metadata concept)	Congenital erythropoietic porphyria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
752399013 - Congenital erythropoietic porphyria (disorder) (en) View
752399013	en	Fully specified name (core metadata concept)	Congenital erythropoietic porphyria (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
38526018 - Congenital photosensitive porphyria (en) View
38526018	en	Synonym (core metadata concept)	Congenital photosensitive porphyria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
481477016 - Haematoporphyria congenita (en) View
481477016	en	Synonym (core metadata concept)	Haematoporphyria congenita	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
38528017 - Hematoporphyria congenita (en) View
38528017	en	Synonym (core metadata concept)	Hematoporphyria congenita	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
38529013 - Porphyria erythropoietica (en) View
38529013	en	Synonym (core metadata concept)	Porphyria erythropoietica	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
38527010 - Congenital porphyria (en) View
38527010	en	Synonym (core metadata concept)	Congenital porphyria	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
1223001018 - CEP - Congenital erythropoietic porphyria (en) View
1223001018	en	Synonym (core metadata concept)	CEP - Congenital erythropoietic porphyria	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1223000017 - Uroporphyrinogen III synthase deficiency (en) View
1223000017	en	Synonym (core metadata concept)	Uroporphyrinogen III synthase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
38525019 - Gunther's disease (en) View
38525019	en	Synonym (core metadata concept)	Gunther's disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (729416025) - 22935002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (729417023) - 22935002 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1671013024) - 22935002 -> 190913009 (116680003) View
116680003 \|Is a (attribute)\|	190913009 \|Congenital porphyria (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (185413028) - 22935002 -> 67312003 (116680003) View
116680003 \|Is a (attribute)\|	67312003 \|Erythropoietic porphyria (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
67312003 View
67312003	Erythropoietic porphyria (disorder)	Erythropoietic porphyria	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 (6a17fdbc-fce7-5a3c-9690-42fb9b9a7ee7) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E80.0	TRUE	ALWAYS E80.0	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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