84918006: Congenital absence of radius (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Congenital anomaly of radius\Congenital absence of radius
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of radius
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital absence of radius
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of radius
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital absence of radius
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Congenital absence of radius
\Finding of limb structure\Finding of upper limb\Absence of upper limb (finding)\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of radius
\Finding of limb structure\Finding of upper limb\Absence of upper limb (finding)\Absence of bone in arm\Congenital absence of radius
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Absence of bone in arm\Congenital absence of radius
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Congenital anomaly of radius\Congenital absence of radius
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Congenital anomaly of radius\Congenital absence of radius
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of radius
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital absence of radius

\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Absence of bone in arm\Congenital absence of radius
\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Congenital anomaly of radius\Congenital absence of radius
\Musculoskeletal finding\Bone finding\Bone absent\Absence of bone in arm\Congenital absence of radius
\Musculoskeletal finding\Bone finding\Bone absent\Congenital absence of skeletal bone\Congenital absence of radius
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of radius
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital absence of radius
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of radius
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital absence of radius
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of radius
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital absence of radius

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of radius
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital absence of radius
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of radius
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital absence of radius
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Congenital absence of radius
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of radius
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital absence of radius
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of radius
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital absence of radius
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Congenital anomaly of radius\Congenital absence of radius
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of radius
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital absence of radius
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of radius
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital absence of radius
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Congenital absence of radius
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of radius
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital absence of radius
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of radius
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital absence of radius
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of radius
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital absence of radius
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Congenital absence of radius

Status: current, 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

140794011 Congenital absence of radius en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

826862018 Congenital absence of radius (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4667731000241114 absence radiale congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital absence of radius	Is a	Longitudinal deficiency of radius	false	Inferred relationship	Some
Congenital absence of radius	Is a	Congenital absence of skeletal bone	true	Inferred relationship	Some
Congenital absence of radius	Associated morphology	Abnormally short growth (morphologic abnormality)	false	Inferred relationship	Some	3
Congenital absence of radius	Associated morphology	Abnormally short growth (morphologic abnormality)	false	Inferred relationship	Some	3
Congenital absence of radius	Associated morphology	Abnormally short growth (morphologic abnormality)	false	Inferred relationship	Some	5
Congenital absence of radius	Occurrence	Congenital	false	Inferred relationship	Some
Congenital absence of radius	Finding site	Skeletal system structure	false	Inferred relationship	Some	2
Congenital absence of radius	Associated morphology	anomalie du développement	false	Inferred relationship	Some
Congenital absence of radius	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Congenital absence of radius	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of radius	Finding site	Bone structure of radius	false	Inferred relationship	Some	1
Congenital absence of radius	Finding site	Bone structure of radius	false	Inferred relationship	Some	3
Congenital absence of radius	Associated morphology	Congenital partial absence	false	Inferred relationship	Some	3
Congenital absence of radius	Finding site	Limb structure	false	Inferred relationship	Some	2
Congenital absence of radius	Finding site	Upper extremity, including shoulder, arm, forearm, wrist, and hand	false	Inferred relationship	Some	5
Congenital absence of radius	Finding site	Connective tissue	false	Inferred relationship	Some
Congenital absence of radius	Associated morphology	Abnormally short growth (morphologic abnormality)	false	Inferred relationship	Some	2
Congenital absence of radius	Finding site	Bone structure of radius	true	Inferred relationship	Some	1
Congenital absence of radius	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of radius	Finding site	Upper extremity, including shoulder, arm, forearm, wrist, and hand	false	Inferred relationship	Some	3
Congenital absence of radius	Associated morphology	Abnormally short growth (morphologic abnormality)	false	Inferred relationship	Some	2
Congenital absence of radius	Finding site	Bone structure of radius	false	Inferred relationship	Some	3
Congenital absence of radius	Finding site	Bone structure of radius	false	Inferred relationship	Some	2
Congenital absence of radius	Associated morphology	Abnormally short growth (morphologic abnormality)	false	Inferred relationship	Some	3
Congenital absence of radius	Finding site	Bone structure of radius	false	Inferred relationship	Some	1
Congenital absence of radius	Associated morphology	Abnormally short growth (morphologic abnormality)	false	Inferred relationship	Some	1
Congenital absence of radius	Finding site	Bone structure of radius	false	Inferred relationship	Some	2
Congenital absence of radius	Associated morphology	Abnormally short growth (morphologic abnormality)	false	Inferred relationship	Some	3
Congenital absence of radius	Is a	Congenital anomaly of radius	true	Inferred relationship	Some
Congenital absence of radius	Is a	Congenital absence of upper limb	false	Inferred relationship	Some
Congenital absence of radius	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of radius	Finding site	Bone structure of radius	false	Inferred relationship	Some	1
Congenital absence of radius	Is a	Absence of bone in arm	true	Inferred relationship	Some
Congenital absence of radius	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital absence of radius	Finding site	Bone structure of radius	false	Inferred relationship	Some	2
Congenital absence of radius	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Congenital absence of radius	Is a	Congenital absence of part of upper limb	true	Inferred relationship	Some
Congenital absence of radius	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital absence of radius	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital absence of radius	Finding site	Entire radius	false	Inferred relationship	Some	1
Congenital absence of radius	Associated morphology	Agenesis (morphologic abnormality)	false	Inferred relationship	Some	1
Congenital absence of radius	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Partial radial absence (disorder)	Is a	False	Congenital absence of radius	Inferred relationship	Some
Longitudinal absence of radius AND ulna	Is a	True	Congenital absence of radius	Inferred relationship	Some
Agenesis of radius	Is a	False	Congenital absence of radius	Inferred relationship	Some
Radial aplasia-thrombocytopenia syndrome	Is a	False	Congenital absence of radius	Inferred relationship	Some
A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.	Is a	False	Congenital absence of radius	Inferred relationship	Some
Congenital absence of bilateral radiuses (disorder)	Is a	False	Congenital absence of radius	Inferred relationship	Some
Correction of congenital absence of radius	Has focus	True	Congenital absence of radius	Inferred relationship	Some	2
Aplasia of radius	Is a	True	Congenital absence of radius	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
140794011	Congenital absence of radius	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
826862018	Congenital absence of radius (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4667731000241114	absence radiale congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module