FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.9.0 | FHIR Version n/a User: [n/a]

65524005: Mannosidosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Oligosaccharidosis\Mannosidosis
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Mannosidosis
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\Mannosidosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Mannosidosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Dysostosis multiplex group\Mannosidosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mannosidosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Mannosidosis
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Mannosidosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Mannosidosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mannosidosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Dysostosis multiplex group\Mannosidosis
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Mannosidosis
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mannosidosis
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Oligosaccharidosis\Mannosidosis
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Mannosidosis
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\Mannosidosis
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis\Mannosidosis
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Dysostosis multiplex group\Mannosidosis
\Disease\Metabolic disease\Metabolic bone disease\Dysostosis multiplex group\Mannosidosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Mannosidosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mannosidosis
\Disease\Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Oligosaccharidosis\Mannosidosis
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Mannosidosis
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\Mannosidosis
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mannosidosis
\Disease\Developmental disorder\Developmental hereditary disorder\Dysostosis multiplex group\Mannosidosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Mannosidosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mannosidosis

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

108872013 Mannosidosis en Synonym Active Case insensitive SNOMED CT core
108873015 Mannosidosis, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
108874014 alpha-Mannosidase deficiency en Synonym Active Case sensitive SNOMED CT core
1232691014 Alpha-D-mannosidosis en Synonym Active Initial character case insensitive SNOMED CT core
1232692019 Alpha-mannosidase deficiency en Synonym Active Case insensitive SNOMED CT core
805037019 Mannosidosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mannosidosis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Mannosidosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Mannosidosis	Is a	Oligosaccharidosis	true	Inferred relationship	Some
Mannosidosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Mannosidosis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Mannosidosis	Is a	Dysostosis multiplex group	true	Inferred relationship	Some
Mannosidosis	Is a	Glycoprotein metabolism disorder	false	Inferred relationship	Some
Mannosidosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Mannosidosis	Finding site	Bone structure	false	Inferred relationship	Some	1
Mannosidosis	Occurrence	Congenital	false	Inferred relationship	Some	2
Mannosidosis	Finding site	Bone structure	false	Inferred relationship	Some	2
Mannosidosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Mannosidosis	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Mannosidosis	Occurrence	Congenital	false	Inferred relationship	Some
Mannosidosis	Finding site	Bone structure	true	Inferred relationship	Some	1
Mannosidosis	Finding site	Skeletal system structure	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mannosidosis, type II	Is a	True	Mannosidosis	Inferred relationship	Some
Mannosidosis, type I	Is a	True	Mannosidosis	Inferred relationship	Some
Beta-D-mannosidosis	Is a	False	Mannosidosis	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
108872013	Mannosidosis	en	Synonym	Active	Case insensitive	SNOMED CT core
108873015	Mannosidosis, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
108874014	alpha-Mannosidase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
1232691014	Alpha-D-mannosidosis	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
1232692019	Alpha-mannosidase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
805037019	Mannosidosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core