23156007: milde 'maple-syrup urine disease' (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Maple syrup urine disease\Mild maple syrup urine disease

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Maple syrup urine disease\Mild maple syrup urine disease

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Maple syrup urine disease\Mild maple syrup urine disease

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Maple syrup urine disease\Mild maple syrup urine disease
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Maple syrup urine disease\Mild maple syrup urine disease
\Metabolic disease\Enzymopathy\Maple syrup urine disease\Mild maple syrup urine disease

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

38890014 Mild maple syrup urine disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

752644010 Mild maple syrup urine disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6060231000146117 milde MSUD nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6060241000146113 milde esdoornstroopziekte nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7064111000146111 milde 'maple-syrup urine disease' (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7064121000146118 milde 'maple-syrup urine disease' nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mild maple syrup urine disease	Is a	Maple syrup urine disease	true	Inferred relationship	Some
Mild maple syrup urine disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Mild maple syrup urine disease	Finding site	Body system structure	false	Inferred relationship	Some
Mild maple syrup urine disease	Severity	Mild	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets