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

\Hereditary nephropathy (disorder)\syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale

\Disorder of renal parenchyma (disorder)\Glomerular disease\syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale

Descriptions:

Id Description Lang Type Status Case? Module

1013531000241110 syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

1013541000241117 syndrome d'hypotrichose, lymphœdème, télangiectasie, glomérulonéphrite membranoproliférative fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	morphologie associée (attribut)	modification de la croissance	true	Inferred relationship	Some	1
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	localisation d'une constatation (attribut)	Hair structure (body structure)	true	Inferred relationship	Some	1
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	morphologie associée (attribut)	Telangiectasis	true	Inferred relationship	Some	2
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	localisation d'une constatation (attribut)	Glomerulus structure	true	Inferred relationship	Some	4
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	localisation d'une constatation (attribut)	Microscopic skin vascular structure	true	Inferred relationship	Some	2
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	morphologie associée (attribut)	Lymphatic oedema	true	Inferred relationship	Some	3
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	est un(e) (attribut)	Telangiectasia of skin (disorder)	true	Inferred relationship	Some
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	localisation d'une constatation (attribut)	structure d'un membre	true	Inferred relationship	Some	3
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	est un(e) (attribut)	Autosomal hereditary disorder	true	Inferred relationship	Some
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	est un(e) (attribut)	Hypotrichosis (disorder)	true	Inferred relationship	Some
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	est un(e) (attribut)	Glomerular disease	true	Inferred relationship	Some
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	est un(e) (attribut)	télangiectasies	false	Inferred relationship	Some
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	est un(e) (attribut)	lymphœdème héréditaire	true	Inferred relationship	Some
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	est un(e) (attribut)	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	est un(e) (attribut)	Hereditary disorder of the integument	true	Inferred relationship	Some
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	est un(e) (attribut)	Congenital vascular disorder (disorder)	false	Inferred relationship	Some
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	est un(e) (attribut)	Hereditary nephropathy (disorder)	true	Inferred relationship	Some
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	survenue (attribut)	congénital	false	Inferred relationship	Some	4
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	morphologie associée (attribut)	Telangiectasis	false	Inferred relationship	Some	5
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	survenue (attribut)	congénital	false	Inferred relationship	Some	5
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	localisation d'une constatation (attribut)	Microscopic skin vascular structure	false	Inferred relationship	Some	5
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	survenue (attribut)	congénital	false	Inferred relationship	Some	6
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	localisation d'une constatation (attribut)	Glomerulus structure	false	Inferred relationship	Some	6
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	survenue (attribut)	congénital	false	Inferred relationship	Some	7
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	localisation d'une constatation (attribut)	Hair structure (body structure)	false	Inferred relationship	Some	7
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	morphologie associée (attribut)	Lymphatic oedema	false	Inferred relationship	Some	4

Inbound Relationships

Characteristic

Refinability

Reference Sets

Id	Description	Lang	Type	Status	Case?	Module
1013531000241110	syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
1013541000241117	syndrome d'hypotrichose, lymphœdème, télangiectasie, glomérulonéphrite membranoproliférative	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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