Terminology chevron_right Descriptions chevron_right 4570796010 - Hyperphenylalaninemia due to BH4 (tetrahydrobiopterin) deficiency (en)

Component

4570796010

The component that hold information about this description.

Concept

68724006 |Tetrahydrobiopterin synthesis defect (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

Hyperphenylalaninemia due to BH4 (tetrahydrobiopterin) deficiency

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

Case Significance

900000000000020002 |Only initial character case insensitive (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

Acceptable