14870002: Achondrogenesis, type IB (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 IB

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

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

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

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
25257011	Achondrogenesis, type IB	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
741311019	Achondrogenesis, type IB (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
25257011	Achondrogenesis, type IB	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
741311019	Achondrogenesis, type IB (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3416871001000110	Achondrogenesie Typ 1B	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
931571000172115	achondrogenèse type 1B	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1011361000172117	achondrogenèse type Parenti-Fraccaro	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
931571000172115	achondrogenèse type 1B	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1011361000172117	achondrogenèse type Parenti-Fraccaro	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3416871001000110	Achondrogenesie Typ 1B	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module