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Terminology chevron_right Concepts chevron_right 1821000146108

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Component

1821000146108

The component that hold information about this concept.

Fully Specified Name (FSN)

Hereditary metabolic disease (disorder)

Shortest Term

Hereditary metabolic 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

Hereditary metabolic disease (disorder)

SCTID: 1821000146108, Primitive, Active

1821000146108|Hereditary metabolic disease (disorder)|

en Hereditary metabolic disease
en Hereditary metabolic disease (disorder)

Expression

1821000146108 |Hereditary metabolic disease (disorder)|
 <<< 32895009 |Hereditary disease (disorder)| + 
75934005 |Metabolic disease (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5089667015 - Hereditary metabolic disease (en) View
5089667015	en	Synonym (core metadata concept)	Hereditary metabolic disease	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5089668013 - Hereditary metabolic disease (disorder) (en) View
5089668013	en	Fully specified name (core metadata concept)	Hereditary metabolic disease (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15281249021) - 1821000146108 -> 32895009 (116680003) View
116680003 \|Is a (attribute)\|	32895009 \|Hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15281250021) - 1821000146108 -> 75934005 (116680003) View
116680003 \|Is a (attribute)\|	75934005 \|Metabolic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
32895009 View
32895009	Hereditary disease (disorder)	Genetic disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
75934005 View
75934005	Metabolic disease (disorder)	Bệnh chuyển hóa	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
698953004 View
698953004	Inherited aminoaciduria (disorder)	Inherited aminoaciduria	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1237515001 View
1237515001	Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder)	Alkaline ceramidase 3 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187535000 View
1187535000	Thymidine kinase 2 deficiency (disorder)	Thymidine kinase 2 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
271847005 View
271847005	Hereditary hypertyrosinemia (disorder)	Hereditary tyrosinemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
35400008 View
35400008	Hereditary hemochromatosis (disorder)	Primary hemochromatosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
763531001 View
763531001	Familial benign copper deficiency (disorder)	Familial benign hypocupremia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722292000 View
722292000	Autosomal dominant beta2-microglobulinic amyloidosis (disorder)	Variant abeta2m amyloidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
398680004 View
398680004	Citrullinemia (disorder)	Citrullinemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
403832004 View
403832004	Inherited disorder of porphyrin metabolism (disorder)	Inherited disorder of porphyrin metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
54627004 View
54627004	Hereditary xanthinuria (disorder)	Classical xanthinuria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
63702009 View
63702009	Alstrom syndrome (disorder)	Alstrom syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
80887004 View
80887004	Inherited methylmalonic acidemia and homocystinuria (disorder)	Cobalamin locus f variant	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

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (8f80fbb2-3d8f-5201-a020-42225faa127d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E88.9	TRUE	ALWAYS E88.9	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)\|

Terminology chevron_right Concepts chevron_right 1821000146108

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