FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

254199006: Hereditary lymphedema (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
378402014 Hereditary lymphedema en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
378403016 Hereditary lymphoedema en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
645056013 Hereditary lymphedema (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
378402014 Hereditary lymphedema en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
378402014 Hereditary lymphedema en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
378403016 Hereditary lymphoedema en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
378403016 Hereditary lymphoedema en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
645056013 Hereditary lymphedema (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
645056013 Hereditary lymphedema (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1783509011 Primary lymphoedema en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1783878011 Primary lymphedema en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
111151000077115 lymphœdème héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
111151000077115 lymphœdème héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

18 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary lymphedema Is a Herditary disorder of lymphatic system false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary lymphedema Is a Hereditary disorder of immune system false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary lymphedema Is a Lymphoedema false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary lymphedema Is a Disorder of lymphatic vessel (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary lymphedema Finding site Structure of peripheral lymphatic vessel (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary lymphedema Associated morphology Oedema false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary lymphedema Finding site Structure of soft tissue (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary lymphedema Associated morphology Lymphatic edema true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary lymphedema Associated morphology Obstruction false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary lymphedema Finding site Structure of lymphatic system false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary lymphedema Associated morphology Lymphatic edema false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary lymphedema Is a Hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary lymphedema Is a Primary lymphedema true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary lymphedema Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary lymphedema Finding site Limb structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary lymphedema Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary edema of legs Is a False Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary trophedema Is a False Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)
Milroy's disease Is a False Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)
Distichiasis-lymphedema syndrome Is a True Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)
Congenital elephantiasis Is a False Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary edema of legs NOS Is a False Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary lymphedema type I Is a True Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary lymphedema type II (disorder) Is a True Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)
Primary lymphedema tardum (disorder) Is a True Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary lymphedema and yellow nails (disorder) Is a True Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)
Campomelia Cumming type (disorder) Is a False Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. Is a True Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis, and nail abnormalities. There have been no further descriptions in the literature since 1993. Is a True Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)
Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. Is a True Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)
Lymphedema and cerebral arteriovenous anomaly syndrome (disorder) Is a False Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Is a True Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)
German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and carp-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987. Is a True Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome Is a True Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)
PEHO-like syndrome is a rare, genetic neurological disease characterised by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb oedema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. Is a False Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)
Hennekam lymphangiectasia-lymphoedema syndrome Is a True Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)
Cholestasis-oedema syndrome, Norwegian type Is a True Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)
Emberger syndrome Is a True Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder) Is a True Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)
Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome (disorder) Is a True Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum. Is a False Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)
Lymphedema praecox Is a True Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum. Is a True Hereditary lymphedema Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start