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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 Reference Sets
3424241011 Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3424242016 Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core US English: Preferred (foundation metadata concept)
3424243014 Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3424244015 HLTRS (hypotrichosis, lymphedema, telangiectasia, renal defect) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core US English: Acceptable (foundation metadata concept)
3424245019 HLTRS (hypotrichosis, lymphoedema, telangiectasia, renal defect) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
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 US English: Preferred (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)
2161111000172114 "syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale" fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Preferred (foundation metadata concept)
2161131000172118 "syndrome d'hypotrichose, lymphœdème, télangiectasie, glomérulonéphrite membranoproliférative" fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2161091000172115 "syndroom van hypotrichose, lymfoedeem, teleangiëctasie en renaal defect" nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2161101000172111 "syndroom van hypotrichose, lymfoedeem, teleangiëctasie en nierdefect" nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2161121000172116 "syndroom van hypotrichose, lymfoedeem, telangiëctasie en renaal defect" nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Is a Autosomal hereditary disorder true Inferred relationship Some
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Is a Hypotrichosis true Inferred relationship Some
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Is a Glomerular disease true Inferred relationship Some
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Is a Telangiectasia disorder true Inferred relationship Some
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Is a Hereditary lymphedema true Inferred relationship Some
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Is a Congenital vascular disorder (disorder) false Inferred relationship Some
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Some
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Associated morphology Telangiectasis false Inferred relationship Some 5
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Finding site Microscopic skin vascular structure false Inferred relationship Some 5
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Finding site Glomerulus structure false Inferred relationship Some 6
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Finding site Hair structure (body structure) false Inferred relationship Some 7
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Associated morphology Lymphatic edema false Inferred relationship Some 4
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Associated morphology Growth alteration true Inferred relationship Some 1
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 1
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Associated morphology Telangiectasis true Inferred relationship Some 2
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Finding site Glomerulus structure true Inferred relationship Some 4
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Finding site Microscopic skin vascular structure true Inferred relationship Some 2
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Associated morphology Lymphatic edema true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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