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723363009: Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3424241011 Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424242016 Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424243014 Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424244015 HLTRS (hypotrichosis, lymphedema, telangiectasia, renal defect) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424245019 HLTRS (hypotrichosis, lymphoedema, telangiectasia, renal defect) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403016011 An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403017019 An extremely rare syndromic lymphoedema disorder characterised by early-onset hypotrichosis, childhood-onset lymphoedema, and variable telangiectasia, particularly of the palms. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424241011 Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424242016 Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424243014 Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424244015 HLTRS (hypotrichosis, lymphedema, telangiectasia, renal defect) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424245019 HLTRS (hypotrichosis, lymphoedema, telangiectasia, renal defect) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424246018 An extremely rare syndromic lymphedema disorder characterized by four features which begin in early childhood and are progressive; hypotrichosis, lymphedema, variable telangiectasia particularly of the palms and renal defect. There is evidence that this syndrome is caused by heterozygous mutation in the SOX18 gene on chromosome 20q13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424247010 An extremely rare syndromic lymphoedema disorder characterised by four features which begin in early childhood and are progressive; hypotrichosis, lymphoedema, variable telangiectasia particularly of the palms and renal defect. There is evidence that this syndrome is caused by heterozygous mutation in the SOX18 gene on chromosome 20q13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403016011 An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403017019 An extremely rare syndromic lymphoedema disorder characterised by early-onset hypotrichosis, childhood-onset lymphoedema, and variable telangiectasia, particularly of the palms. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447351001000117 Hypotrichose - Lymphödem - Telangiektasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1013531000241110 syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1013541000241117 syndrome d'hypotrichose, lymphœdème, télangiectasie, glomérulonéphrite membranoproliférative fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1013531000241110 syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1013541000241117 syndrome d'hypotrichose, lymphœdème, télangiectasie, glomérulonéphrite membranoproliférative fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3447351001000117 Hypotrichose - Lymphödem - Telangiektasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Is a Autosomal hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Is a Hypotrichosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Is a Glomerular disease true Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Is a Telangiectasia disorder false Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Is a Hereditary lymphedema true Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Is a Congenital vascular disorder false Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Associated morphology Telangiectasis false Inferred relationship Existential restriction modifier (core metadata concept) 5
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Finding site Microscopic skin vascular structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Finding site Glomerulus structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 6
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Finding site Hair structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 7
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Associated morphology Lymphatic edema false Inferred relationship Existential restriction modifier (core metadata concept) 4
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Associated morphology Growth alteration true Inferred relationship Existential restriction modifier (core metadata concept) 1
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Finding site Hair structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Associated morphology Telangiectasis true Inferred relationship Existential restriction modifier (core metadata concept) 2
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Finding site Glomerulus structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Finding site Microscopic skin vascular structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Associated morphology Lymphatic edema true Inferred relationship Existential restriction modifier (core metadata concept) 3
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Is a Telangiectasia of skin (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Finding site Limb structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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