FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

259428003: Lysosomal storage disease marker (substance)

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
386335019 Lysosomal storage disease marker en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
386336018 Lipidoses marker en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
650991011 Lysosomal storage disease marker (substance) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
386335019 Lysosomal storage disease marker en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
386335019 Lysosomal storage disease marker en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
386336018 Lipidoses marker en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
386336018 Lipidoses marker en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
650991011 Lysosomal storage disease marker (substance) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
650991011 Lysosomal storage disease marker (substance) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

135 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lysosomal storage disease marker (substance) Is a Inborn errors of metabolism marker (substance) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Acid esterase Is a False Lysosomal storage disease marker (substance) Inferred relationship Existential restriction modifier (core metadata concept)
Acid lipase Is a False Lysosomal storage disease marker (substance) Inferred relationship Existential restriction modifier (core metadata concept)
Asialo GM2 Is a True Lysosomal storage disease marker (substance) Inferred relationship Existential restriction modifier (core metadata concept)
Ceramidase Is a False Lysosomal storage disease marker (substance) Inferred relationship Existential restriction modifier (core metadata concept)
Cerebroside sulfatase activator Is a True Lysosomal storage disease marker (substance) Inferred relationship Existential restriction modifier (core metadata concept)
GM2-ganglioside activator protein (substance) Is a True Lysosomal storage disease marker (substance) Inferred relationship Existential restriction modifier (core metadata concept)
Lysobisphosphatidic acid Is a True Lysosomal storage disease marker (substance) Inferred relationship Existential restriction modifier (core metadata concept)
N-Acetylglucosamine (substance) Is a True Lysosomal storage disease marker (substance) Inferred relationship Existential restriction modifier (core metadata concept)
Sphingomyelinase Is a False Lysosomal storage disease marker (substance) Inferred relationship Existential restriction modifier (core metadata concept)
Sulfolipid Is a True Lysosomal storage disease marker (substance) Inferred relationship Existential restriction modifier (core metadata concept)
Cerebrosidase Is a False Lysosomal storage disease marker (substance) Inferred relationship Existential restriction modifier (core metadata concept)
Cerebroside-sulfatase Is a True Lysosomal storage disease marker (substance) Inferred relationship Existential restriction modifier (core metadata concept)
Acid phosphatase (substance) Is a True Lysosomal storage disease marker (substance) Inferred relationship Existential restriction modifier (core metadata concept)
Beta-galactosidase (substance) Is a False Lysosomal storage disease marker (substance) Inferred relationship Existential restriction modifier (core metadata concept)
Ganglioside (substance) Is a True Lysosomal storage disease marker (substance) Inferred relationship Existential restriction modifier (core metadata concept)
Beta-N-acetylhexosaminidase Is a True Lysosomal storage disease marker (substance) Inferred relationship Existential restriction modifier (core metadata concept)
Mucopolysaccharide Is a True Lysosomal storage disease marker (substance) Inferred relationship Existential restriction modifier (core metadata concept)
Cholesterol (substance) Is a True Lysosomal storage disease marker (substance) Inferred relationship Existential restriction modifier (core metadata concept)
Triacylglycerol Is a True Lysosomal storage disease marker (substance) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start