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86268005: Achondroplasia (disorder)

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

\Clinical history and observation findings\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Achondrogenesis\Achondroplasia
\Clinical history and observation findings\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Achondrogenesis\Achondroplasia

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	Reference Sets
143065010	Achondroplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
143066011	Chondrodystrophia fetalis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
143067019	Achondroplastic dwarf	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
143069016	Osteosclerosis congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
143070015	Congenital osteosclerosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
507012010	Achondroplastic dwarfism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
828495014	Achondroplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
1110711000052114	akondroplasi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Achondroplasia	Is a	äkta dvärgväxt	false	Inferred relationship	Some
Achondroplasia	Is a	Defects of the tubular (and flat) bones and/or axial skeleton	false	Inferred relationship	Some
Achondroplasia	Is a	Achondrogenesis	true	Inferred relationship	Some
Achondroplasia	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Achondroplasia	Finding site	Both upper extremities	false	Inferred relationship	Some
Achondroplasia	Finding site	Structure of epiphysis	false	Inferred relationship	Some	1
Achondroplasia	Finding site	Both lower extremities	false	Inferred relationship	Some
Achondroplasia	Occurrence	Congenital	false	Inferred relationship	Some
Achondroplasia	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Achondroplasia	Associated morphology	Growth alteration	false	Inferred relationship	Some	1
Achondroplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Achondroplasia	Is a	Disorder of epiphysis	true	Inferred relationship	Some
Achondroplasia	Is a	Short stature disorder	false	Inferred relationship	Some
Achondroplasia	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Achondroplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Achondroplasia	Finding site	Structure of epiphysis	false	Inferred relationship	Some	1
Achondroplasia	Associated morphology	Growth alteration	false	Inferred relationship	Some	1
Achondroplasia	Occurrence	Congenital	true	Inferred relationship	Some	3
Achondroplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Achondroplasia	Finding site	Bone structure	true	Inferred relationship	Some	3
Achondroplasia	Occurrence	Congenital	false	Inferred relationship	Some	4
Achondroplasia	Occurrence	Congenital	false	Inferred relationship	Some	5
Achondroplasia	Finding site	Bone structure	false	Inferred relationship	Some	5
Achondroplasia	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	3
Achondroplasia	Associated morphology	kongenital hypoplasi	false	Inferred relationship	Some	5
Achondroplasia	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	4
Achondroplasia	Finding site	Bone structure	false	Inferred relationship	Some	4
Achondroplasia	Associated morphology	Growth alteration	false	Inferred relationship	Some	3
Achondroplasia	Finding site	Structure of epiphysis	false	Inferred relationship	Some	3
Achondroplasia	Occurrence	Congenital	true	Inferred relationship	Some	2
Achondroplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Achondroplasia	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Achondroplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Achondroplasia	Occurrence	Congenital	false	Inferred relationship	Some	1
Achondroplasia	Associated morphology	Hypoplasia	true	Inferred relationship	Some	2
Achondroplasia	Finding site	Skeletal system structure	false	Inferred relationship	Some	2
Achondroplasia	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Achondroplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Achondroplasia	Is a	Chondrodysplasia (disorder)	true	Inferred relationship	Some
Achondroplasia	Finding site	Structure of epiphysis	true	Inferred relationship	Some	2
Achondroplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Achondroplasia	Interprets	Height / growth measure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
svår akondroplasi med försenad utveckling och acanthosis nigricans	Is a	False	Achondroplasia	Inferred relationship	Some
Family history of achondroplasia (situation)	Associated finding	True	Achondroplasia	Inferred relationship	Some	1
Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder)	Is a	False	Achondroplasia	Inferred relationship	Some
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)	Is a	True	Achondroplasia	Inferred relationship	Some

This concept is not in any reference sets

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