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2391001: Achondrogenesis (disorder)

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

\Clinical history and observation findings\Finding of general physiological development\Disorder of stature\Short stature disorder\Achondrogenesis

\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Skeletal dysplasia\Achondrogenesis
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Skeletal dysplasia\Achondrogenesis
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Skeletal dysplasia\Achondrogenesis
\Finding by site\Disorder by body site (disorder)\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Congenital anomaly of skeletal bone\Skeletal dysplasia\Achondrogenesis
\Finding by site\Disorder by body site (disorder)\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Skeletal dysplasia\Achondrogenesis
\Finding by site\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Skeletal dysplasia\Achondrogenesis
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Skeletal dysplasia\Achondrogenesis
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Skeletal dysplasia\Achondrogenesis
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Skeletal dysplasia\Achondrogenesis

Status: current, Necessary but not sufficient concept definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
5094011	Achondrogenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
753487013	Achondrogenesis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Achondrogenesis	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Achondrogenesis	Finding site	Both lower extremities	false	Inferred relationship	Some
Achondrogenesis	Occurrence	Congenital	false	Inferred relationship	Some
Achondrogenesis	Finding site	Both upper extremities	false	Inferred relationship	Some
Achondrogenesis	Is a	Disorder of upper extremity (disorder)	false	Inferred relationship	Some
Achondrogenesis	Is a	Disorder of lower extremity (disorder)	false	Inferred relationship	Some
Achondrogenesis	Is a	Short stature disorder	true	Inferred relationship	Some
Achondrogenesis	Finding site	Bone structure	false	Inferred relationship	Some	1
Achondrogenesis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Achondrogenesis	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Achondrogenesis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Achondrogenesis	Finding site	Bone structure	false	Inferred relationship	Some	1
Achondrogenesis	Occurrence	Congenital	true	Inferred relationship	Some	2
Achondrogenesis	Finding site	Bone structure	true	Inferred relationship	Some	2
Achondrogenesis	Associated morphology	Congenital dysplasia	true	Inferred relationship	Some	2
Achondrogenesis	Occurrence	Congenital	true	Inferred relationship	Some	3
Achondrogenesis	Associated morphology	Congenital hypoplasia	true	Inferred relationship	Some	3
Achondrogenesis	Finding site	Bone structure	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Achondrogenesis, type IB	Is a	True	Achondrogenesis	Inferred relationship	Some
Achondrogenesis, type IA	Is a	True	Achondrogenesis	Inferred relationship	Some
Camptomelic dysplasia	Is a	True	Achondrogenesis	Inferred relationship	Some
Jeune thoracic dystrophy	Is a	False	Achondrogenesis	Inferred relationship	Some
Achondroplasia	Is a	True	Achondrogenesis	Inferred relationship	Some
Achondrogenesis, type II	Is a	True	Achondrogenesis	Inferred relationship	Some

This concept is not in any reference sets

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