3642008: stoornis met deficiëntie van steroïdsulfatase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Deficiency of steryl-sulfatase

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

7154012 Deficiency of steryl-sulfatase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
194815011 Steryl-sulfate sulfohydrolase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
194816012 Arylsulfatase C deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
486444016 Arylsulphatase C deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
486445015 Deficiency of steryl-sulphatase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
486446019 Steryl-sulphate sulphohydrolase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
768171019 Disorder involving deficiency of steryl-sulfatase (EC 3.1.6.2) (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2770314016 Disorder involving deficiency of steryl-sulfatase (EC 3.1.6.2) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
7416981000146115 stoornis met deficiëntie van steryl-sulfatase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7670201000146113 stoornis door steroïdsulfatasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7670211000146110 stoornis door arylsulfatase C nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7733591000146116 stoornis met deficiëntie van steroïdsulfatase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7733601000146114 stoornis met deficiëntie van steroïdsulfatase (aandoening) nl Fully specified name 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
Deficiency of steryl-sulfatase	Is a	Enzymopathy	true	Inferred relationship	Some
Deficiency of steryl-sulfatase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Placental sulfatase deficiency	Is a	True	Deficiency of steryl-sulfatase	Inferred relationship	Some
X-linked ichthyosis with steryl-sulfatase deficiency	Is a	True	Deficiency of steryl-sulfatase	Inferred relationship	Some

This concept is not in any reference sets