363190001: Hereditary disorder of lymphatic system (disorder)

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

\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of lymphatic system (disorder)

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of lymphatic system (disorder)
\Disorder of body system\Disorder of lymphatic system\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

5229881000241113 affection héréditaire du système lymphatique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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