1222670005: Gap junction protein gamma 2-related late-onset primary lymphedema (disorder)

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

\Finding of limb structure\Edema of extremity (finding)\Lymphedema of limb (disorder)\Primary lymphedema is a lymphatic system malformation characterized by swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphangiogenesis) It can be hereditary or not and be congenital or late onset.\A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.
\Finding of limb structure\Disorder of limb (disorder)\Lymphedema of limb (disorder)\Primary lymphedema is a lymphatic system malformation characterized by swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphangiogenesis) It can be hereditary or not and be congenital or late onset.\A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.

\Oedema\Edema of extremity (finding)\Lymphedema of limb (disorder)\Primary lymphedema is a lymphatic system malformation characterized by swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphangiogenesis) It can be hereditary or not and be congenital or late onset.\A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.
\Oedema\Disorder characterized by edema\Lymphedema\Lymphedema of limb (disorder)\Primary lymphedema is a lymphatic system malformation characterized by swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphangiogenesis) It can be hereditary or not and be congenital or late onset.\A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.

\Disease\Genetic disease\A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.
\Disease\Disorder of limb (disorder)\Lymphedema of limb (disorder)\Primary lymphedema is a lymphatic system malformation characterized by swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphangiogenesis) It can be hereditary or not and be congenital or late onset.\A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.
\Disease\Disorder characterized by edema\Lymphedema\Lymphedema of limb (disorder)\Primary lymphedema is a lymphatic system malformation characterized by swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphangiogenesis) It can be hereditary or not and be congenital or late onset.\A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.
\Disease\Developmental disorder\Primary lymphedema is a lymphatic system malformation characterized by swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphangiogenesis) It can be hereditary or not and be congenital or late onset.\A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5048439014 A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5048440011 A rare genetic primary lymphoedema characterised by lymphoedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5048434016 Gap junction protein gamma 2-related late-onset primary lymphoedema en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5048435015 GJC2-related late-onset primary lymphedema en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5048436019 GJC2-related late-onset primary lymphoedema en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5048437011 Gap junction protein gamma 2-related late-onset primary lymphedema (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5048438018 Gap junction protein gamma 2-related late-onset primary lymphedema en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

7758361000241113 lymphœdème primaire tardif associé à GJC2 (gap junction protein gamma 2) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3380981001000111 GJC2-assoziiertes spät-beginnendes primäres Lymphödem de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.	Is a	Primary lymphedema is a lymphatic system malformation characterized by swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphangiogenesis) It can be hereditary or not and be congenital or late onset.	true	Inferred relationship	Some
A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.	Is a	Genetic disease	true	Inferred relationship	Some
A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.	Finding site	Limb structure	true	Inferred relationship	Some	1
A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.	Associated morphology	Lymphatic edema	true	Inferred relationship	Some	1
A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

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Active

Source

Characteristic

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Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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US English

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Id	Description	Lang	Type	Status	Case?	Module
5048439014	A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5048440011	A rare genetic primary lymphoedema characterised by lymphoedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5048434016	Gap junction protein gamma 2-related late-onset primary lymphoedema	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048435015	GJC2-related late-onset primary lymphedema	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5048436019	GJC2-related late-onset primary lymphoedema	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5048437011	Gap junction protein gamma 2-related late-onset primary lymphedema (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048438018	Gap junction protein gamma 2-related late-onset primary lymphedema	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7758361000241113	lymphœdème primaire tardif associé à GJC2 (gap junction protein gamma 2)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3380981001000111	GJC2-assoziiertes spät-beginnendes primäres Lymphödem	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module