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419097006: ziekte van Danon (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2006. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2577707016 Danon disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4634468019 Glycogenosis due to LAMP-2 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4634469010 Lysosomal glycogen storage disease with normal acid maltase activity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4634470011 Glycogen storage disease due to LAMP-2 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5223350017 Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5223351018 Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
101361000146117 ziekte van Danon nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
976141000146117 ziekte van Danon (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Danon disease Is a Cardiomyopathy true Inferred relationship Some
Danon disease Is a X-linked hereditary disease false Inferred relationship Some
Danon disease Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Danon disease Is a multisysteemaandoening false Inferred relationship Some
Danon disease Is a Glycogen storage disease true Inferred relationship Some
Danon disease Finding site Myocardium structure true Inferred relationship Some 2
Danon disease Occurrence Congenital true Inferred relationship Some 1
Danon disease Is a X-linked recessive hereditary disease false Inferred relationship Some
Danon disease Is a X-linked dominant hereditary disease (disorder) true Inferred relationship Some
Danon disease Is a Lysosomal storage disease (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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