254061001: Achondrogenesis, type II (disorder)

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

\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 (disorder)

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

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

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

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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Achondrogenesis, type II (disorder)	Is a	Spondyloepiphyseal dysplasia congenita group (disorder)	true	Inferred relationship	Some
Achondrogenesis, type II (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Achondrogenesis, type II (disorder)	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Achondrogenesis, type II (disorder)	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Achondrogenesis, type II (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Achondrogenesis, type II (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Achondrogenesis, type II (disorder)	Is a	Achondrogenesis	true	Inferred relationship	Some
Achondrogenesis, type II (disorder)	Finding site	Both lower extremities	false	Inferred relationship	Some
Achondrogenesis, type II (disorder)	Finding site	Both upper extremities	false	Inferred relationship	Some
Achondrogenesis, type II (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Achondrogenesis, type II (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
Achondrogenesis, type II (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Achondrogenesis, type II (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Achondrogenesis, type II (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	2
Achondrogenesis, type II (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Achondrogenesis, type II (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Achondrogenesis, type II (disorder)	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	3
Achondrogenesis, type II (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	3
Achondrogenesis, type II (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Achondrogenesis, type II (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Achondrogenesis, type II (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Achondrogenesis, type II (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Achondrogenesis, type II (disorder)	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