FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

1222669009: Congenital primary lymphedema of Gordon (disorder)


Status: current, Primitive. Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5048427018 VEGFC-related congenital primary lymphedema en Synonym Active Case sensitive SNOMED CT core
5048428011 Congenital primary lymphedema of Gordon (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
5048429015 Congenital primary lymphedema of Gordon en Synonym Active Initial character case insensitive SNOMED CT core
5048430013 Congenital primary lymphoedema of Gordon en Synonym Active Initial character case insensitive SNOMED CT core
5048431012 VEGFC-related congenital primary lymphoedema en Synonym Active Case sensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start