130197005: Deficiency of N-acetylgalactosamine-6-sulfatase (finding)

SNOMED CT Concept\Clinical finding (finding)\Procedure related finding\Evaluation finding\Measurement finding\...

\Finding of substance level (finding)\Protein level - finding\Deficiency of N-acetylgalactosamine-6-sulfatase
\Finding of substance level (finding)\Enzyme level - finding\Deficiency of N-acetylgalactosamine-6-sulfatase

\Measurement finding outside reference range\Measurement finding below reference range (finding)\Deficiency of N-acetylgalactosamine-6-sulfatase

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

209247014 Deficiency of chondroitinase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

209248016 Deficiency of galactose-6-sulfate sulfatase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

209249012 Deficiency of chondroitinsulfatase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

209250012 Deficiency of N-acetylgalactosamine-6-sulfatase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

474915016 Deficiency of chondroitinsulphatase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

474916015 Deficiency of galactose-6-sulphate sulphatase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

474917012 Deficiency of N-acetylgalactosamine-6-sulphatase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

734437016 Deficiency of N-acetylgalactosamine-6-sulfatase (finding) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

10658491000172118 déficit en chondroïtinase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

10658501000172111 déficit en N-acétylgalactosamine-6-sulfatase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

10658511000172114 déficit en chondroïtinsulphatase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

3992111000172114 deficiëntie van N-acetylgalactosamine-6-sulfatase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

3992121000172116 deficiëntie van galactose-6-sulfaatsulfatase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of N-acetylgalactosamine-6-sulfatase	Is a	Quantity of physiologic substance outside reference range	false	Inferred relationship	Some
Deficiency of N-acetylgalactosamine-6-sulfatase	Interprets	Laboratory test	false	Inferred relationship	Some
Deficiency of N-acetylgalactosamine-6-sulfatase	Finding method (attribute)	Procedure	false	Inferred relationship	Some
Deficiency of N-acetylgalactosamine-6-sulfatase	Interprets	Measurement	false	Inferred relationship	Some	1
Deficiency of N-acetylgalactosamine-6-sulfatase	Is a	Measurement finding below reference range (finding)	true	Inferred relationship	Some
Deficiency of N-acetylgalactosamine-6-sulfatase	Is a	Enzyme level - finding	true	Inferred relationship	Some
Deficiency of N-acetylgalactosamine-6-sulfatase	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Deficiency of N-acetylgalactosamine-6-sulfatase	Interprets	N-acetylgalactosamine-6-sulfatase measurement	true	Inferred relationship	Some	1
Deficiency of N-acetylgalactosamine-6-sulfatase	Is a	Protein level - finding	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets