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68390005: Sphingolipid activator protein 1 deficiency (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
113595017 Sphingolipid activator protein 1 deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
808219010 Sphingolipid activator protein 1 deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1233038014 Saposin B deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
1233039018 SAPI - Sphingolipid activator protein I deficiency en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Sphingolipid activator protein 1 deficiency Is a Metachromatic leucodystrophy false Inferred relationship Existential restriction modifier
Sphingolipid activator protein 1 deficiency Finding site Body system structure false Inferred relationship Existential restriction modifier
Sphingolipid activator protein 1 deficiency Occurrence Congenital false Inferred relationship Existential restriction modifier
Sphingolipid activator protein 1 deficiency Is a Metachromatic leucodystrophy true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group
Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency Due to True Sphingolipid activator protein 1 deficiency Inferred relationship Existential restriction modifier 1

This concept is not in any reference sets

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