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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
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 Hereditary disorder of lymphatic system (disorder) false Inferred relationship Some
Hereditary lymphedema Is a Hereditary disorder of immune system false Inferred relationship Some
Hereditary lymphedema Is a Lymphedema false Inferred relationship Some
Hereditary lymphedema Is a Disorder of lymphatic vessel (disorder) false Inferred relationship Some
Hereditary lymphedema Finding site Structure of peripheral lymphatic vessel (body structure) false Inferred relationship Some 1
Hereditary lymphedema Associated morphology Edema false Inferred relationship Some
Hereditary lymphedema Finding site Structure of soft tissue (body structure) false Inferred relationship Some
Hereditary lymphedema Associated morphology Lymphatic edema true Inferred relationship Some 1
Hereditary lymphedema Associated morphology Obstruction false Inferred relationship Some 1
Hereditary lymphedema Finding site Structure of lymphatic system (body structure) false Inferred relationship Some 1
Hereditary lymphedema Associated morphology Lymphatic edema false Inferred relationship Some 1
Hereditary lymphedema Is a Hereditary disease false Inferred relationship Some
Hereditary lymphedema 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
Hereditary lymphedema Is a Developmental hereditary disorder true Inferred relationship Some
Hereditary lymphedema Finding site Limb structure true Inferred relationship Some 1
Hereditary lymphedema Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary edema of legs Is a False Hereditary lymphedema Inferred relationship Some
Hereditary trophedema Is a False Hereditary lymphedema Inferred relationship Some
Milroy's disease Is a False Hereditary lymphedema Inferred relationship Some
Distichiasis-lymphedema syndrome Is a True Hereditary lymphedema Inferred relationship Some
Congenital elephantiasis Is a False Hereditary lymphedema Inferred relationship Some
Hereditary edema of legs NOS Is a False Hereditary lymphedema Inferred relationship Some
Hereditary lymphedema type I (disorder) Is a True Hereditary lymphedema Inferred relationship Some
Hereditary lymphedema type II (disorder) Is a True Hereditary lymphedema Inferred relationship Some
Primary lymphedema tardum (disorder) Is a True Hereditary lymphedema Inferred relationship Some
Hereditary lymphedema and yellow nails (disorder) Is a True Hereditary lymphedema Inferred relationship Some
Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. Is a False Hereditary lymphedema Inferred relationship Some
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. Is a True Hereditary lymphedema Inferred relationship Some
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 Some
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 Some
Lymphedema-cerebral arteriovenous anomaly syndrome is characterized by the variable association of a cerebrovascular malformation, foot lymphedema and primary pulmonary hypertension. It has been described in a woman and four of her children. There have been no further descriptions in the literature since 1986. Is a False Hereditary lymphedema Inferred relationship Some
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 Some
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 Some
A rare early childhood onset progressive encephalopathy characterized by extreme cerebellar atrophy, infantile onset hypotonia, infantile spasms with hypsarrhythmia, profound intellectual disability, and optic atrophy. PEHO stands for the main features of the syndrome: Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy. Is a True Hereditary lymphedema Inferred relationship Some
PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, 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 Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder) Is a True Hereditary lymphedema Inferred relationship Some
Cholestasis-edema syndrome, Norwegian type Is a True Hereditary lymphedema Inferred relationship Some
Emberger syndrome Is a True Hereditary lymphedema Inferred relationship Some
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, intellectual disability, macrothrombocytopenia, lymphedema, and dysmorphic facial features (like synophrys, ptosis, eversion of the lateral portion of the lower eyelid, and thin upper lip, among others). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies, and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy, or white matter changes. Is a True Hereditary lymphedema Inferred relationship Some
A rare primary lymphoedema characterised by extensive, multisegmental lymphoedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal naevi and capillary malformations have also been reported. Is a True Hereditary lymphedema Inferred relationship Some
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 Some
Lymphedema praecox Is a True Hereditary lymphedema Inferred relationship Some
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 Some

This concept is not in any reference sets

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