1222669009: Congenital primary lymphedema of Gordon (disorder)

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

\Finding of limb structure\Edema of extremity (finding)\Lymphedema of limb (disorder)\Primary lymphedema\Congenital primary lymphedema of Gordon (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Lymphedema of limb (disorder)\Primary lymphedema\Congenital primary lymphedema of Gordon (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital primary lymphedema of Gordon (disorder)

\Oedema\Edema of extremity (finding)\Lymphedema of limb (disorder)\Primary lymphedema\Congenital primary lymphedema of Gordon (disorder)
\Oedema\Disorder characterized by edema\Lymphoedema\Lymphedema of limb (disorder)\Primary lymphedema\Congenital primary lymphedema of Gordon (disorder)

\Disease\Genetic disease\Congenital primary lymphedema of Gordon (disorder)
\Disease\Disorder of limb (disorder)\Lymphedema of limb (disorder)\Primary lymphedema\Congenital primary lymphedema of Gordon (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital primary lymphedema of Gordon (disorder)
\Disease\Disorder characterized by edema\Lymphoedema\Lymphedema of limb (disorder)\Primary lymphedema\Congenital primary lymphedema of Gordon (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital primary lymphedema of Gordon (disorder)
\Disease\Developmental disorder\Primary lymphedema\Congenital primary lymphedema of Gordon (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital primary lymphedema of Gordon (disorder)

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

5048427018 VEGFC-related congenital primary lymphedema en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5048428011 Congenital primary lymphedema of Gordon (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5048429015 Congenital primary lymphedema of Gordon en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5048430013 Congenital primary lymphoedema of Gordon en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5048431012 VEGFC-related congenital primary lymphoedema en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5048432017 A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5048433010 A rare primary lymphoedema characterised by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to oedema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphoedema and significantly more uptake of tracers on lymphoscintigraphy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

13644041000172114 congenitaal primair lymfoedeem van Gordon nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

13644051000172111 VEGFC-gerelateerd congenitaal primair lymfoedeem nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital primary lymphedema of Gordon (disorder)	Is a	Primary lymphedema	true	Inferred relationship	Some
Congenital primary lymphedema of Gordon (disorder)	Is a	Congenital anomaly of limb	true	Inferred relationship	Some
Congenital primary lymphedema of Gordon (disorder)	Is a	Genetic disease	true	Inferred relationship	Some
Congenital primary lymphedema of Gordon (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital primary lymphedema of Gordon (disorder)	Finding site	Limb structure	true	Inferred relationship	Some	1
Congenital primary lymphedema of Gordon (disorder)	Associated morphology	Lymphatic edema	true	Inferred relationship	Some	1
Congenital primary lymphedema of Gordon (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5048427018	VEGFC-related congenital primary lymphedema	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5048428011	Congenital primary lymphedema of Gordon (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5048429015	Congenital primary lymphedema of Gordon	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5048430013	Congenital primary lymphoedema of Gordon	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5048431012	VEGFC-related congenital primary lymphoedema	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5048432017	A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5048433010	A rare primary lymphoedema characterised by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to oedema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphoedema and significantly more uptake of tracers on lymphoscintigraphy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13644041000172114	congenitaal primair lymfoedeem van Gordon	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
13644051000172111	VEGFC-gerelateerd congenitaal primair lymfoedeem	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)