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1217208003: L-ferritin deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5035134012 L-ferritin deficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5035135013 L-ferritin deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5035136014 LFTD - L-ferritin deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5035137017 A rare genetic haematologic disease characterised by decreased or undetectable serum L-ferritin with otherwise normal laboratory parameters. Clinical signs and symptoms include generalised seizures, atypical restless leg syndrome, mild neuropsychologic impairment and progressive hair loss. Asymptomatic cases have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5035138010 A rare genetic hematologic disease characterized by decreased or undetectable serum L-ferritin with otherwise normal laboratory parameters. Clinical signs and symptoms include generalized seizures, atypical restless leg syndrome, mild neuropsychologic impairment and progressive hair loss. Asymptomatic cases have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5595061000052110 L-ferritinbrist sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
L-ferritin deficiency (disorder) Is a Serum ferritin level below reference range true Inferred relationship Some
L-ferritin deficiency (disorder) Is a Autosomal hereditary disorder true Inferred relationship Some
L-ferritin deficiency (disorder) Interprets Serum ferritin measurement true Inferred relationship Some 1
L-ferritin deficiency (disorder) Has interpretation Below reference range true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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