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279081001: Dysostosis multiplex group (disorder)

Status: current, Not 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
416203012 Dysostosis multiplex group en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
672320018 Dysostosis multiplex group (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6092251000241110 groupe de dysostose multiple fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

15 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dysostosis multiplex group Is a Disorder of lysosomal enzyme true Inferred relationship Some
Dysostosis multiplex group Is a Congenital skeletal dysplasia (disorder) true Inferred relationship Some
Dysostosis multiplex group Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Dysostosis multiplex group Associated morphology Dysplasia true Inferred relationship Some 1
Dysostosis multiplex group Finding site Skeletal system structure false Inferred relationship Some 1
Dysostosis multiplex group Occurrence Congenital false Inferred relationship Some
Dysostosis multiplex group Finding site Bone structure true Inferred relationship Some 1
Dysostosis multiplex group Associated morphology Congenital dysplasia false Inferred relationship Some 1
Dysostosis multiplex group Is a Metabolic bone disease true Inferred relationship Some
Dysostosis multiplex group Is a Connective tissue hereditary disorder false Inferred relationship Some
Dysostosis multiplex group Finding site Bone structure false Inferred relationship Some 1
Dysostosis multiplex group Associated morphology Congenital dysplasia false Inferred relationship Some 1
Dysostosis multiplex group Occurrence Congenital false Inferred relationship Some 2
Dysostosis multiplex group Finding site Bone structure false Inferred relationship Some 2
Dysostosis multiplex group Associated morphology Congenital dysplasia false Inferred relationship Some 2
Dysostosis multiplex group Occurrence Congenital true Inferred relationship Some 1
Dysostosis multiplex group Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Dysostosis multiplex group Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Dysostosis multiplex group Is a Developmental hereditary disorder false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
GM1 gangliosidosis Is a True Dysostosis multiplex group Inferred relationship Some
Ganglioside sialidase deficiency Is a False Dysostosis multiplex group Inferred relationship Some
Sialic storage disease Is a True Dysostosis multiplex group Inferred relationship Some
A lysosomal storage disease with characteristics of coarse facial features, macular cherry red spot, and dysostosis multiplex. Clinical presentation can be heterogeneous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form. Is a True Dysostosis multiplex group Inferred relationship Some
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids. Is a False Dysostosis multiplex group Inferred relationship Some
A rare lysosomal storage disease characterized by widespread tissue buildup of glycolipids and oligosaccharides rich in fucose. Patients present with broad clinical characteristics such as intellectual disability, developmental delay associated with psychomotor regression and bone abnormalities, visceromegaly, hyperhidrosis, and dermatological abnormalities. Is a False Dysostosis multiplex group Inferred relationship Some
Mannosidosis Is a True Dysostosis multiplex group Inferred relationship Some
I-cell disease Is a True Dysostosis multiplex group Inferred relationship Some
Dysostosis multiplex Is a True Dysostosis multiplex group Inferred relationship Some
A rare genetic disease characterized by early-onset respiratory difficulties and frequent respiratory infections, congenital heart defects, dysostosis multiplex, hepatosplenomegaly, renal involvement, hematopoietic abnormalities, facial dysmorphism (coarse facial features, large forehead, synophrys, long eyelashes, broad nasal bridge, macroglossia, short neck, and low hairline), and global developmental delay. Laboratory examination shows increased urinary excretion of glycosaminoglycans and increased plasma heparan sulfate, but no lysosomal enzyme deficiency. The disease is usually fatal in the first years of life. Is a True Dysostosis multiplex group Inferred relationship Some

Reference Sets

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