254061001: Achondrogenesis, type II (disorder)

SNOMED CT Concept\Clinical 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 of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Achondrogenesis, type II
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Achondrogenesis, type II
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Achondrogenesis\Achondrogenesis, type II
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Achondrogenesis, type II
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Achondrogenesis, type II
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Achondrogenesis\Achondrogenesis, type II
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Achondrogenesis, type II

\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Achondrogenesis, type II
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Achondrogenesis\Achondrogenesis, type II
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Achondrogenesis, type II
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Achondrogenesis, type II
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Achondrogenesis\Achondrogenesis, type II
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Achondrogenesis, type II
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Achondrogenesis\Achondrogenesis, type II
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Achondrogenesis, type II
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Achondrogenesis\Achondrogenesis, type II
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Achondrogenesis, type II
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Achondrogenesis, type II
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Achondrogenesis\Achondrogenesis, type II
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Achondrogenesis, type II
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Achondrogenesis\Achondrogenesis, type II
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\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, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378208011 Achondrogenesis, type II en Synonym Active Initial character case insensitive SNOMED CT core
378209015 Langer-Saldino dysplasia en Synonym Active Case sensitive SNOMED CT core
378210013 Langer-Saldino achondrogenesis en Synonym Active Case sensitive SNOMED CT core
644901016 Achondrogenesis, type II (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Achondrogenesis, type II	Occurrence	Congenital	true	Inferred relationship	Some	1
Achondrogenesis, type II	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Achondrogenesis, type II	Pathological process	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
Achondrogenesis, type II	Associated morphology	Congenital dysplasia	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	Congenital dysplasia	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	Congenital dysplasia	false	Inferred relationship	Some	2
Achondrogenesis, type II	Occurrence	Congenital	false	Inferred relationship	Some	3
Achondrogenesis, type II	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	3
Achondrogenesis, type II	Finding site	Bone structure	false	Inferred relationship	Some	3
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	Is a	Spondyloepiphyseal dysplasia congenita	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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
378208011	Achondrogenesis, type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
378209015	Langer-Saldino dysplasia	en	Synonym	Active	Case sensitive	SNOMED CT core
378210013	Langer-Saldino achondrogenesis	en	Synonym	Active	Case sensitive	SNOMED CT core
644901016	Achondrogenesis, type II (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core