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1187530005: Peroxisome biogenesis disorder due to PEX12 mutation (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
4674090017 PEX12 deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
4674537013 Peroxisome biogenesis disorder due to PEX12 mutation en Synonym Active Only initial character case insensitive SNOMED CT core module
4674538015 Peroxisome biogenesis disorder due to PEX12 mutation (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Peroxisome biogenesis disorder due to PEX12 mutation Is a Peroxisome biogenesis disorder true Inferred relationship Existential restriction modifier
Peroxisome biogenesis disorder due to PEX12 mutation Occurrence Congenital true Inferred relationship Existential restriction modifier 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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