254061001: Achondrogenesis, type II (disorder)

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

\Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Achondrogenesis\Achondrogenesis, type II (disorder)

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

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

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	Existential restriction modifier (core metadata concept)
Achondrogenesis, type II (disorder)	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Achondrogenesis, type II (disorder)	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Achondrogenesis, type II (disorder)	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Achondrogenesis, type II (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Achondrogenesis, type II (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Achondrogenesis, type II (disorder)	Is a	Achondrogenesis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Achondrogenesis, type II (disorder)	Finding site	Both lower extremities	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Achondrogenesis, type II (disorder)	Finding site	Both upper extremities	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Achondrogenesis, type II (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Achondrogenesis, type II (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Achondrogenesis, type II (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Achondrogenesis, type II (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Achondrogenesis, type II (disorder)	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Achondrogenesis, type II (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Achondrogenesis, type II (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Achondrogenesis, type II (disorder)	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Achondrogenesis, type II (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Achondrogenesis, type II (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Achondrogenesis, type II (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Achondrogenesis, type II (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Achondrogenesis, type II (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Achondrogenesis, type II (disorder)	Interprets	Height / growth measure (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
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
3421391001000117	Achondrogenesie Typ 2	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5639991000241119	achondrogenèse type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5640001000241117	achondrogenèse type Langer-Saldino	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5639991000241119	achondrogenèse type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5640001000241117	achondrogenèse type Langer-Saldino	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3421391001000117	Achondrogenesie Typ 2	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module