1145466009: Aplasia 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)\Aplasia of bone of radius and/or ulna\Aplasia of radius
\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\Aplasia 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\Aplasia of bone of upper limb\Aplasia of bone of radius and/or ulna\Aplasia 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\Aplasia 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\Aplasia of radius
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Aplasia of limb\Aplasia of bone structure of extremity\Aplasia of bone of upper limb\Aplasia of bone of radius and/or ulna\Aplasia 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\Aplasia of bone of upper limb\Aplasia of bone of radius and/or ulna\Aplasia 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\Aplasia 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\Aplasia 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\Aplasia of bone of upper limb\Aplasia of bone of radius and/or ulna\Aplasia 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\Aplasia 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\Aplasia of bone of upper limb\Aplasia of bone of radius and/or ulna\Aplasia 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\Aplasia of radius
\Finding of limb structure\Finding of upper limb\Absence of upper limb (finding)\Absence of bone in arm\Aplasia of bone of upper limb\Aplasia of bone of radius and/or ulna\Aplasia of radius
\Finding of limb structure\Finding of upper limb\Absence of upper limb (finding)\Absence of bone in arm\Congenital absence of radius\Aplasia of radius
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Absence of bone in arm\Aplasia of bone of upper limb\Aplasia of bone of radius and/or ulna\Aplasia 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\Aplasia of radius
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Congenital anomaly of radius\Congenital absence of radius\Aplasia of radius
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Aplasia of bone of radius and/or ulna\Aplasia 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\Aplasia 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\Aplasia of bone of upper limb\Aplasia of bone of radius and/or ulna\Aplasia 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\Aplasia 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\Aplasia of radius

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4545992012 Aplasia of radius en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4552381018 Aplasia of radius (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aplasia of radius	Is a	Aplasia of bone of radius and/or ulna	true	Inferred relationship	Some
Aplasia of radius	Is a	Congenital absence of radius	true	Inferred relationship	Some
Aplasia of radius	Occurrence	Congenital	true	Inferred relationship	Some	1
Aplasia of radius	Finding site	Bone structure of radius	true	Inferred relationship	Some	1
Aplasia of radius	Associated morphology	Aplasia	true	Inferred relationship	Some	1
Aplasia of radius	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Radial aplasia-thrombocytopenia syndrome	Is a	True	Aplasia of radius	Inferred relationship	Some
Partial radial absence (disorder)	Is a	True	Aplasia 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	True	Aplasia of radius	Inferred relationship	Some
Congenital absence of bilateral radiuses (disorder)	Is a	True	Aplasia of radius	Inferred relationship	Some
Agenesis of radius	Is a	True	Aplasia of radius	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4545992012	Aplasia of radius	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4552381018	Aplasia of radius (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core