234146006: Hennekam lymphangiectasia-lymphedema syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Hennekam syndrome

\Finding of limb structure\Edema of extremity\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Hennekam syndrome
\Finding of limb structure\Disorder of extremity\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Hennekam syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Hennekam syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Hennekam syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Intestinal lymphangiectasis\Hennekam syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Hennekam syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Intestinal lymphangiectasis\Hennekam syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lymphatic structure of trunk\Hennekam syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Hennekam syndrome

\Oedema\Edema of extremity\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Hennekam syndrome
\Oedema\Disorder characterised by oedema\Lymphoedema\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Hennekam syndrome

\General finding of soft tissue\Disorder of soft tissue\...

\Soft tissue lesion\Congenital lymphangiectasia\Hennekam syndrome
\Soft tissue lesion\Intestinal lymphangiectasis\Hennekam syndrome

\Disorder of lymphatic vessel\Lymphatic malformation\Congenital lymphangiectasia\Hennekam syndrome
\Disorder of lymphatic vessel\Intestinal lymphangiectasis\Hennekam syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hennekam syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hennekam syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hennekam syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Hennekam syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Hennekam syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Hennekam syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of lymphatic system\Hennekam syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hennekam syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary lymphoedema\Hennekam syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hennekam syndrome
\Disease\Disorder of immune function\Hereditary disorder of immune system\Hennekam syndrome
\Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Hennekam syndrome
\Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Hennekam syndrome
\Disease\Disorder of body system\Disorder of immune structure\Hennekam syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of lymphatic system\Hennekam syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hennekam syndrome
\Disease\Disorder of body system\Disorder of lymphatic system\Hereditary disorder of lymphatic system\Hennekam syndrome
\Disease\Disorder of body system\Disorder of lymphatic system\Congenital anomaly of lymphatic structure of trunk\Hennekam syndrome
\Disease\Disorder of body system\Disorder of lymphatic system\Disorder of lymphatic vessel\Lymphatic malformation\Congenital lymphangiectasia\Hennekam syndrome
\Disease\Disorder of body system\Disorder of lymphatic system\Disorder of lymphatic vessel\Intestinal lymphangiectasis\Hennekam syndrome
\Disease\Disorder of extremity\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Hennekam syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Hennekam syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Hennekam syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Intestinal lymphangiectasis\Hennekam syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lymphatic structure of trunk\Hennekam syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Hennekam syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hennekam syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hennekam syndrome
\Disease\Disorder characterised by oedema\Lymphoedema\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Hennekam syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Hennekam syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Hennekam syndrome
\Disease\Congenital disease\Congenital anomaly\Lymphatic malformation\Congenital lymphangiectasia\Hennekam syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hennekam syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lymphatic structure of trunk\Hennekam syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Hennekam syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Hennekam syndrome
\Disease\Congenital disease\Congenital immunodeficiency disease\Hennekam syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Congenital lymphangiectasia\Hennekam syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Intestinal lymphangiectasis\Hennekam syndrome
\Disease\Disorder of soft tissue\Disorder of lymphatic vessel\Lymphatic malformation\Congenital lymphangiectasia\Hennekam syndrome
\Disease\Disorder of soft tissue\Disorder of lymphatic vessel\Intestinal lymphangiectasis\Hennekam syndrome
\Disease\Developmental disorder\Primary lymphoedema\Hereditary lymphoedema\Hennekam syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Hennekam syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary lymphoedema\Hennekam syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Hennekam syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Hennekam syndrome
\Disease\Developmental disorder\Congenital anomaly\Lymphatic malformation\Congenital lymphangiectasia\Hennekam syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hennekam syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lymphatic structure of trunk\Hennekam syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Hennekam syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Hennekam syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

350809011 Hennekam lymphangiectasia-lymphoedema syndrome en Synonym Active Case sensitive SNOMED CT core

350810018 Hennekam lymphangiectasia-lymphedema syndrome en Synonym Active Case sensitive SNOMED CT core

3789477016 Hennekam syndrome en Synonym Active Case sensitive SNOMED CT core

3789478014 Lymphoedema, lymphangiectasia, intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

3789479018 Lymphedema, lymphangiectasia, intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

622428014 Hennekam lymphangiectasia-lymphedema syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hennekam syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Hennekam syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Hennekam syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Hennekam syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Hennekam syndrome	Is a	Hereditary lymphoedema	true	Inferred relationship	Some
Hennekam syndrome	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Hennekam syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Hennekam syndrome	Is a	Combined immunodeficiency disease	true	Inferred relationship	Some
Hennekam syndrome	Is a	Disorder of immune structure	true	Inferred relationship	Some
Hennekam syndrome	Pathological process	Abnormal immune process	true	Inferred relationship	Some	4
Hennekam syndrome	Is a	Hereditary disorder of lymphatic system	true	Inferred relationship	Some
Hennekam syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Hennekam syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Hennekam syndrome	Finding site	Face structure	true	Inferred relationship	Some	3
Hennekam syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Hennekam syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hennekam syndrome	Is a	Congenital anomaly of lymphatic structure of trunk	true	Inferred relationship	Some
Hennekam syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Hennekam syndrome	Is a	Congenital lymphangiectasia	true	Inferred relationship	Some
Hennekam syndrome	Finding site	Structure of lymphatic vessel of intestine	true	Inferred relationship	Some	2
Hennekam syndrome	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Some
Hennekam syndrome	Is a	Intestinal lymphangiectasis	true	Inferred relationship	Some
Hennekam syndrome	Associated morphology	Lymphatic oedema	true	Inferred relationship	Some	1
Hennekam syndrome	Finding site	Structure of immune system	true	Inferred relationship	Some	4
Hennekam syndrome	Is a	Congenital anomaly of abdomen	false	Inferred relationship	Some
Hennekam syndrome	Is a	Congenital anomaly of lower trunk	true	Inferred relationship	Some
Hennekam syndrome	Is a	Developmental hereditary disorder	false	Inferred relationship	Some
Hennekam syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	5
Hennekam syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Hennekam syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	6
Hennekam syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Hennekam syndrome	Is a	Congenital anomaly of limb	true	Inferred relationship	Some
Hennekam syndrome	Finding site	Limb structure	true	Inferred relationship	Some	1
Hennekam syndrome	Is a	Intestinal disease	false	Inferred relationship	Some
Hennekam syndrome	Associated morphology	Arteriovenous malformation	false	Inferred relationship	Some	1
Hennekam syndrome	Finding site	Venous structure	false	Inferred relationship	Some	1
Hennekam syndrome	Associated morphology	Lymphangiectasis	true	Inferred relationship	Some	2
Hennekam syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Hennekam syndrome	Is a	Congenital abnormality of vein	false	Inferred relationship	Some
Hennekam syndrome	Finding site	Venous structure	false	Inferred relationship	Some	1
Hennekam syndrome	Associated morphology	Arteriovenous malformation	false	Inferred relationship	Some	1
Hennekam syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Hennekam syndrome	Finding site	Cardiovascular system subdivision	false	Inferred relationship	Some	2
Hennekam syndrome	Is a	Congenital arteriovenous malformation	false	Inferred relationship	Some
Hennekam syndrome	Is a	Congenital anomaly of digestive system	false	Inferred relationship	Some
Hennekam syndrome	Is a	Vascular disorder of intestine	false	Inferred relationship	Some
Hennekam syndrome	Is a	Congenital anomaly of trunk	false	Inferred relationship	Some
Hennekam syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Hennekam syndrome	Associated morphology	Arteriovenous malformation	false	Inferred relationship	Some	2
Hennekam syndrome	Finding site	Blood vessel structure	false	Inferred relationship	Some	2
Hennekam syndrome	Is a	Venous malformation	false	Inferred relationship	Some
Hennekam syndrome	Finding site	Arterial structure	false	Inferred relationship	Some	1
Hennekam syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Hennekam syndrome	Finding site	Intestinal lymphatic trunk	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
350809011	Hennekam lymphangiectasia-lymphoedema syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
350810018	Hennekam lymphangiectasia-lymphedema syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3789477016	Hennekam syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3789478014	Lymphoedema, lymphangiectasia, intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3789479018	Lymphedema, lymphangiectasia, intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
622428014	Hennekam lymphangiectasia-lymphedema syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core