254061001: Achondrogenesis, type II (disorder)

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

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Achondrogenesis\Achondrogenesis, type II

\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\Achondrogenesis, type II

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Achondrogenesis, type II
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)\Achondrogenesis, type II
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Achondrogenesis\Achondrogenesis, type II
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Achondrogenesis, type II
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)\Achondrogenesis, type II
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Achondrogenesis\Achondrogenesis, type II
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Achondrogenesis, type II

\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)\Achondrogenesis, type II
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Achondrogenesis\Achondrogenesis, type II
\Disease\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\Spondyloepiphyseal dysplasia congenita group (disorder)\Achondrogenesis, type II
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)\Achondrogenesis, type II
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Achondrogenesis\Achondrogenesis, type II
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Achondrogenesis, type II
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Achondrogenesis\Achondrogenesis, type II
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)\Achondrogenesis, type II
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Achondrogenesis\Achondrogenesis, type II
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Achondrogenesis, type II
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Achondrogenesis, type II
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Achondrogenesis\Achondrogenesis, type II
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)\Achondrogenesis, type II
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Achondrogenesis\Achondrogenesis, type II
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Achondrogenesis, type II
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Achondrogenesis\Achondrogenesis, type II

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
Achondrogenesis, type II	Is a	Spondyloepiphyseal dysplasia congenita group (disorder)	true	Inferred relationship	Some
Achondrogenesis, type II	Finding site	Bone structure	true	Inferred relationship	Some	1
Achondrogenesis, type II	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Achondrogenesis, type II	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Achondrogenesis, type II	Occurrence	Congenital	false	Inferred relationship	Some
Achondrogenesis, type II	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Achondrogenesis, type II	Is a	Achondrogenesis	true	Inferred relationship	Some
Achondrogenesis, type II	Finding site	Both lower extremities	false	Inferred relationship	Some
Achondrogenesis, type II	Finding site	Both upper extremities	false	Inferred relationship	Some
Achondrogenesis, type II	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Achondrogenesis, type II	Finding site	Bone structure	false	Inferred relationship	Some	1
Achondrogenesis, type II	Occurrence	Congenital	true	Inferred relationship	Some	2
Achondrogenesis, type II	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Achondrogenesis, type II	Finding site	Bone structure	true	Inferred relationship	Some	2
Achondrogenesis, type II	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Achondrogenesis, type II	Occurrence	Congenital	false	Inferred relationship	Some	3
Achondrogenesis, type II	Associated morphology	kongenital hypoplasi	false	Inferred relationship	Some	3
Achondrogenesis, type II	Finding site	Bone structure	false	Inferred relationship	Some	3
Achondrogenesis, type II	Occurrence	Congenital	true	Inferred relationship	Some	1
Achondrogenesis, type II	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Achondrogenesis, type II	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Achondrogenesis, type II	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Achondrogenesis, type II	Interprets	Height / growth measure	true	Inferred relationship	Some	3

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
378208011	Achondrogenesis, type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
378209015	Langer-Saldino dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
378210013	Langer-Saldino achondrogenesis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
644901016	Achondrogenesis, type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1997291000052112	akondrogenes, typ 2	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)