234146006: Hennekam lymphangiectasia-lymphedema syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Hennekam lymphangiectasia-lymphedema syndrome

\Finding of limb structure\Edema of extremity\Lymphedema of limb\Primary lymphedema\Hereditary lymphedema\Hennekam lymphangiectasia-lymphedema syndrome
\Finding of limb structure\Disorder of extremity\Lymphedema of limb\Primary lymphedema\Hereditary lymphedema\Hennekam lymphangiectasia-lymphedema syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Hennekam lymphangiectasia-lymphedema syndrome

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

\Edema\Edema of extremity\Lymphedema of limb\Primary lymphedema\Hereditary lymphedema\Hennekam lymphangiectasia-lymphedema syndrome
\Edema\Disorder characterized by edema\Lymphedema\Lymphedema of limb\Primary lymphedema\Hereditary lymphedema\Hennekam lymphangiectasia-lymphedema syndrome

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

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

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

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

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Hennekam lymphangiectasia-lymphedema syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Hennekam lymphangiectasia-lymphedema syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Hennekam lymphangiectasia-lymphedema syndrome

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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

350809011 Hennekam lymphangiectasia-lymphoedema syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

350810018 Hennekam lymphangiectasia-lymphedema syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

622428014 Hennekam lymphangiectasia-lymphedema syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3789477016 Hennekam syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3789478014 Lymphoedema, lymphangiectasia, intellectual disability syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3789479018 Lymphedema, lymphangiectasia, intellectual disability syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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