1187515001: deficiëntie van mitochondriale fosfaatdrager (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mitochondrial phosphate carrier deficiency

\Metabolic disease\Mitochondrial cytopathy (disorder)\Mitochondrial metabolism defect\Mitochondrial phosphate carrier deficiency

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

Descriptions:

Id Description Lang Type Status Case? Module

4674059019 Mitochondrial phosphate carrier deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4674060012 Mitochondrial phosphate carrier deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
13246551000146117 deficiëntie van mitochondriale fosfaatdrager nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13246561000146119 deficiëntie van mitochondriale fosfaatdrager (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13309561000146113 deficiëntie van mitochondriale fosfaattransporter nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13309571000146119 deficiëntie van mitochondriële fosfaat-'carrier' nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mitochondrial phosphate carrier deficiency	Is a	Mitochondrial metabolism defect	true	Inferred relationship	Some
Mitochondrial phosphate carrier deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Mitochondrial phosphate carrier deficiency	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets