234146006: Hennekam lymphangiectasia-lymphedema syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

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

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

\Oedema\Edema of extremity (finding)\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\Hennekam lymphangiectasia-lymphedema syndrome (disorder)
\Oedema\Disorder characterized by edema\Lymphoedema\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\Hennekam lymphangiectasia-lymphedema syndrome (disorder)

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

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

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

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

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

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

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Hennekam lymphangiectasia-lymphedema syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Hennekam lymphangiectasia-lymphedema syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Hennekam lymphangiectasia-lymphedema syndrome (disorder)

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

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	Congenital arteriovenous malformation	false	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	Congenital anomaly of digestive system	false	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	Vascular disorder of intestine	false	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	Congenital anomaly of trunk	false	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Finding site	Cardiovascular system subdivision	false	Inferred relationship	Some	2
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Finding site	Arterial structure	false	Inferred relationship	Some	1
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Finding site	Intestinal lymphatic trunk	false	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	Disorder of intestine	false	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Associated morphology	Arteriovenous malformation	false	Inferred relationship	Some	1
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Finding site	Venous structure	false	Inferred relationship	Some	1
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Associated morphology	Lymphangiectasis	true	Inferred relationship	Some	2
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Associated morphology	Kongenit malformation	false	Inferred relationship	Some	1
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	Congenital abnormality of vein	false	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Finding site	Venous structure	false	Inferred relationship	Some	1
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Associated morphology	Arteriovenous malformation	false	Inferred relationship	Some	1
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Associated morphology	Arteriovenous malformation	false	Inferred relationship	Some	2
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Finding site	Blood vessel structure (body structure)	false	Inferred relationship	Some	2
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	Venous malformation	false	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	Hereditary lymphedema	true	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	Combined immunodeficiency disease	true	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	Disorder of immune structure (disorder)	true	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	4
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	Hereditary disorder of lymphatic system (disorder)	true	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	3
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	Congenital anomaly of lymphatic structure of trunk (disorder)	true	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	Congenital lymphangiectasia	true	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Finding site	Structure of lymphatic vessel of intestine (body structure)	true	Inferred relationship	Some	2
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	Intestinal lymphangiectasis	true	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Associated morphology	Lymphatic edema	true	Inferred relationship	Some	1
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	4
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	Congenital anomaly of abdomen	false	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	Congenital anomaly of lower trunk	true	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	Developmental hereditary disorder	false	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	5
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	6
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	Congenital anomaly of limb	true	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Finding site	Limb structure	true	Inferred relationship	Some	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 (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
350810018	Hennekam lymphangiectasia-lymphedema syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
622428014	Hennekam lymphangiectasia-lymphedema syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3789477016	Hennekam syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3789478014	Lymphoedema, lymphangiectasia, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3789479018	Lymphedema, lymphangiectasia, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4911491000005118	Hennekams syndrom med lymfangiektasi og lymfødem	da	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	dansk modul