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Terminology chevron_right Concepts chevron_right 267498002

Production

Component

The component that hold information about this concept.

Fully Specified Name (FSN)

(other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosaemia) or (glycogen storage disease) or (von gierke's disease) (disorder)

Shortest Term

Albinism

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

(other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosaemia) or (glycogen storage disease) or (von gierke's disease) (disorder)

SCTID: 267498002, Primitive, Inactive

267498002|(other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosaemia) or (glycogen storage disease) or (von gierke's disease) (disorder)|

en (other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosaemia) or (glycogen storage disease) or (von gierke's disease) (disorder)
en (other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosemia) or (glycogen storage disease) or (von gierke's disease)
en Albinism
en Cystinuria
en Galactosaemia
en Galactosemia
en Glucose-6-phosphate dehydrogenase deficiency
en Glucose-6-phosph.dehydr.defic.
en Glycogen storage disease
en Other amino-acid/carbohydrate
en (other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosaemia) or (glycogen storage disease) or (von gierke's disease)
en Von gierke disease
en Von gierke's disease

Expression

267498002 |(other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosaemia) or (glycogen storage disease) or (von gierke's disease) (disorder)|
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Diagram

Active

Inactive

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
2732857015 - (Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosaemia) or (glycogen storage disease) or (Von Gierke's disease) (disorder) (en) View
2732857015	en	Fully specified name (core metadata concept)	(Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosaemia) or (glycogen storage disease) or (Von Gierke's disease) (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
399097016 - (Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosemia) or (glycogen storage disease) or (Von Gierke's disease) (en) View
399097016	en	Synonym (core metadata concept)	(Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosemia) or (glycogen storage disease) or (Von Gierke's disease)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
399088015 - Albinism (en) View
399088015	en	Synonym (core metadata concept)	Albinism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
399086016 - Cystinuria (en) View
399086016	en	Synonym (core metadata concept)	Cystinuria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
399094011 - Galactosaemia (en) View
399094011	en	Synonym (core metadata concept)	Galactosaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
399095012 - Galactosemia (en) View
399095012	en	Synonym (core metadata concept)	Galactosemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
399087013 - Glucose-6-phosphate dehydrogenase deficiency (en) View
399087013	en	Synonym (core metadata concept)	Glucose-6-phosphate dehydrogenase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
399093017 - Glucose-6-phosph.dehydr.defic. (en) View
399093017	en	Synonym (core metadata concept)	Glucose-6-phosph.dehydr.defic.	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
399090019 - Glycogen storage disease (en) View
399090019	en	Synonym (core metadata concept)	Glycogen storage disease	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
399089011 - Other amino-acid/carbohydrate (en) View
399089011	en	Synonym (core metadata concept)	Other amino-acid/carbohydrate	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
399096013 - (Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosaemia) or (glycogen storage disease) or (Von Gierke's disease) (en) View
399096013	en	Synonym (core metadata concept)	(Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosaemia) or (glycogen storage disease) or (Von Gierke's disease)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
660122012 - (Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosaemia) or (glycogen storage disease) or (Von Gierke's disease) (en) View
660122012	en	Fully specified name (core metadata concept)	(Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosaemia) or (glycogen storage disease) or (Von Gierke's disease)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	False
399091015 - von Gierke disease (en) View
399091015	en	Synonym (core metadata concept)	von Gierke disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
399092010 - Von Gierke's disease (en) View
399092010	en	Synonym (core metadata concept)	Von Gierke's disease	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active

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

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

Terminology chevron_right Concepts chevron_right 267498002

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