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1251446004: NAD(P)HX dehydratase deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
5133488011 NAD(P)HX dehydratase deficiency (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
5133489015 NAD(P)HX dehydratase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
5133490012 CARKD 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
NAD(P)HX dehydratase deficiency Is a Hereditary degenerative disease of central nervous system true Inferred relationship Existential restriction modifier
NAD(P)HX dehydratase deficiency Is a Inherited metabolic disorder of nervous system true Inferred relationship Existential restriction modifier
NAD(P)HX dehydratase deficiency Is a Cerebral atrophy true Inferred relationship Existential restriction modifier
NAD(P)HX dehydratase deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
NAD(P)HX dehydratase deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier 2
NAD(P)HX dehydratase deficiency Finding site Structure of cerebrum true Inferred relationship Existential restriction modifier 1
NAD(P)HX dehydratase deficiency Associated morphology Atrophy 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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