FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.24  |  FHIR Version n/a  User: [n/a]

767133009: familiaire hypercholesterolemie gelijktijdig met en door gecombineerde heterozygote mutaties in 'low-density lipoprotein receptor' en 'low-density lipoprotein receptor adaptor protein-1' (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3664436014 Familial hypercholesterolaemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3664437017 Double heterozygous familial hypercholesterolaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3664439019 Double heterozygous familial hypercholesterolemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3664440017 Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3664441018 Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5066051018 Compound heterozygous familial hypercholesterolemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5066052013 Compound heterozygous familial hypercholesterolaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
7257991000146112 familiaire hypercholesterolemie gelijktijdig met en door gecombineerde heterozygote mutaties in LDL-receptor en LDL-receptoradaptorproteïne 1 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12260661000146118 familiaire hypercholesterolemie gelijktijdig met en door gecombineerde heterozygote mutaties in 'low-density lipoprotein receptor' en 'low-density lipoprotein receptor adaptor protein-1' (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12260671000146112 familiaire hypercholesterolemie gelijktijdig met en door gecombineerde heterozygote mutaties in 'low-density lipoprotein receptor' en 'low-density lipoprotein receptor adaptor protein-1' nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12260681000146114 familiaire hypercholesterolemie gelijktijdig met en door gecombineerde heterozygote mutaties in 'low-density lipoprotein receptor' en LDLRAP1 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Double heterozygous familial hypercholesterolaemia Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Double heterozygous familial hypercholesterolaemia Is a Familial hypercholesterolemia (disorder) true Inferred relationship Some
Double heterozygous familial hypercholesterolaemia Is a Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations true Inferred relationship Some
Double heterozygous familial hypercholesterolaemia Due to Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations true Inferred relationship Some 2
Double heterozygous familial hypercholesterolaemia Has interpretation Above reference range true Inferred relationship Some 1
Double heterozygous familial hypercholesterolaemia Interprets Serum total cholesterol measurement (procedure) true Inferred relationship Some 1
Double heterozygous familial hypercholesterolaemia Is a Hereditary metabolic disease false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Family history of double heterozygous familial hypercholesterolaemia Associated finding True Double heterozygous familial hypercholesterolaemia Inferred relationship Some 1

This concept is not in any reference sets

Back to Start