723363009: syndroom van hypotrichose, lymfoedeem, teleangiëctasie en renaal defect (aandoening)

\Hereditary nephropathy (disorder)\Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder)

\Disorder of renal parenchyma (disorder)\Glomerular disease\Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder)

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

6868641000146114 syndroom van hypotrichose, lymfoedeem, teleangiëctasie en renaal defect (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6868651000146112 syndroom van hypotrichose, lymfoedeem, teleangiëctasie en renaal defect nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6868821000146119 syndroom van hypotrichose, lymfoedeem, teleangiëctasie en nierdefect nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core 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

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
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	false	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
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder)	Is a	Telangiectasia of skin (disorder)	true	Inferred relationship	Some
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder)	Finding site	Limb structure	true	Inferred relationship	Some	3
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder)	Is a	Congenital nephropathy (disorder)	false	Inferred relationship	Some

Inbound Relationships

Characteristic

Refinability

Reference Sets

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
6868641000146114	syndroom van hypotrichose, lymfoedeem, teleangiëctasie en renaal defect (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6868651000146112	syndroom van hypotrichose, lymfoedeem, teleangiëctasie en renaal defect	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6868821000146119	syndroom van hypotrichose, lymfoedeem, teleangiëctasie en nierdefect	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core 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
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