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

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Vascular lesion of skin\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Skin AND/OR mucosa finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Vascular lesion of skin\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome

\Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\...

\Hereditary nephropathy\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome

\Disorder of renal parenchyma\Glomerular disease\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome

\Finding of limb structure\Edema of extremity\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Finding of limb structure\Disorder of extremity\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome

\Oedema\Edema of extremity\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Oedema\Disorder characterised by oedema\Lymphoedema\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Vascular lesion of skin\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\General finding of soft tissue\Blood vessel finding\Vascular disorder\Telangiectasia disorder\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\General finding of soft tissue\Blood vessel finding\Vascular disorder\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Telangiectasia disorder\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Vascular lesion of skin\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Vascular lesion of skin\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Telangiectasia disorder\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Vascular lesion of skin\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Vascular lesion of skin\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome

\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Cardiovascular finding\Cardiovascular disease\Vascular disorder\Telangiectasia disorder\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Cardiovascular finding\Cardiovascular disease\Vascular disorder\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Telangiectasia disorder\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary lymphoedema\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Vascular lesion of skin\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Vascular lesion of skin\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of body system\Cardiovascular disease\Vascular disorder\Telangiectasia disorder\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of body system\Cardiovascular disease\Vascular disorder\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of extremity\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder characterised by oedema\Lymphoedema\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Telangiectasia disorder\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Vascular lesion of skin\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Vascular lesion of skin\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of soft tissue\Vascular disorder\Telangiectasia disorder\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Disorder of soft tissue\Vascular disorder\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Developmental disorder\Primary lymphoedema\Hereditary lymphoedema\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary lymphoedema\Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3424242016 Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome en Synonym Active Case insensitive SNOMED CT core

3424243014 Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome en Synonym Active Case insensitive SNOMED CT core

3424244015 HLTRS (hypotrichosis, lymphedema, telangiectasia, renal defect) syndrome en Synonym Active Case sensitive SNOMED CT core

3424245019 HLTRS (hypotrichosis, lymphoedema, telangiectasia, renal defect) syndrome en Synonym Active Case sensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

REPLACED BY association reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3424241011	Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3424242016	Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3424243014	Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3424244015	HLTRS (hypotrichosis, lymphedema, telangiectasia, renal defect) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3424245019	HLTRS (hypotrichosis, lymphoedema, telangiectasia, renal defect) syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core