Terminology chevron_right Descriptions chevron_right 4970757015 - ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement (en)

Component

4970757015

The component that hold information about this description.

Concept

1208747005 |Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder)|

Identifies the concept to which this description applies. Set to the identifier of a concept with id 138875005

Language Code

en

Specifies the language of the description text using the two character ISO-639-1 code. Note that this specifies a language level only, not a dialect or country code.

Type

900000000000013009 |Synonym (core metadata concept)|

Identifies whether the description is fully specified name a synonym or other description type. This field is set to a child of 900000000000446008

Term

ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

The description version's text value, represented in UTF-8 encoding.

Case Significance

900000000000017005 |Entire term case sensitive (core metadata concept)|

Identifies the concept enumeration value that represents the case significance of this description version. For example, the term may be completely case sensitive, case insensitive or initial letter case insensitive. This field will be set to a child of 900000000000447004

Acceptability

Preferred