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363190001: Hereditary disorder of lymphatic system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1763651016 Hereditary disorder of lymphatic system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1775970010 Hereditary disorder of lymphatic system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of lymphatic system (disorder) Is a Disorder of lymphatic system true Inferred relationship Some
Hereditary disorder of lymphatic system (disorder) Is a Hereditary disorder by system true Inferred relationship Some
Hereditary disorder of lymphatic system (disorder) Finding site Structure of lymphatic system (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary lymphedema Is a False Hereditary disorder of lymphatic system (disorder) Inferred relationship Some
X-linked lymphoproliferative syndrome Is a False Hereditary disorder of lymphatic system (disorder) Inferred relationship Some
An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterised by aplasia cutis congenita of the vertex and generalised oedema (as well as hypoproteinaemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. Is a True Hereditary disorder of lymphatic system (disorder) Inferred relationship Some
A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy. Is a True Hereditary disorder of lymphatic system (disorder) Inferred relationship Some
A rare developmental defect during embryogenesis characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer. Is a True Hereditary disorder of lymphatic system (disorder) Inferred relationship Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder) Is a True Hereditary disorder of lymphatic system (disorder) Inferred relationship Some

This concept is not in any reference sets

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