FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.4-SNAPSHOT | FHIR Version n/a User: [n/a]

62311004: Mannosidosis, type I (disorder)

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

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Mannosidosis\Mannosidosis, type I
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Mannosidosis\Mannosidosis, type I
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Mannosidosis\Mannosidosis, type I
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Mannosidosis\Mannosidosis, type I
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of foetus and/or newborn\Congenital disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of foetus and/or newborn\Congenital disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Mannosidosis\Mannosidosis, type I
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Mannosidosis\Mannosidosis, type I
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Mannosidosis\Mannosidosis, type I
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Mannosidosis\Mannosidosis, type I
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Metabolic disease\Metabolic bone disease (disorder)\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Mannosidosis\Mannosidosis, type I
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mannosidosis, type I	Is a	Mannosidosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mannosidosis, type I	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mannosidosis, type I	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mannosidosis, type I	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mannosidosis, type I	Severity	Severe	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mannosidosis, type I	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mannosidosis, type I	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mannosidosis, type I	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mannosidosis, type I	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mannosidosis, type I	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mannosidosis, type I	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mannosidosis, type I	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mannosidosis, type I	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mannosidosis, type I	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
103567013	Mannosidosis, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
103568015	Mannosidosis infantile onset	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
103569011	Mannosidosis, severe form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
801470013	Mannosidosis, type I (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1232315011	Infantile mannosidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
103567013	Mannosidosis, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
103568015	Mannosidosis infantile onset	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
103568015	Mannosidosis infantile onset	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
103569011	Mannosidosis, severe form	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
103569011	Mannosidosis, severe form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
801470013	Mannosidosis, type I (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1232315011	Infantile mannosidosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1232315011	Infantile mannosidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3433201001000118	Alpha-Mannosidose, infantile Form	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4594371000241113	alpha-mannosidose de type I	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4594371000241113	alpha-mannosidose de type I	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3433201001000118	Alpha-Mannosidose, infantile Form	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module