123559005: Congenital anomaly 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
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of radius
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Congenital anomaly of radius
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Congenital anomaly of radius
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of radius

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

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius
\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\Congenital anomaly of radius
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Congenital anomaly of radius
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of radius
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of radius
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly 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

192048011 Congenital anomaly of radius en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

726514016 Congenital anomaly of radius (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1877291000005119 Kongenit anomali i radius da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of radius	Is a	Congenital anomaly of upper limb	true	Inferred relationship	Some
Congenital anomaly of radius	Is a	Disorder of forearm (disorder)	true	Inferred relationship	Some
Congenital anomaly of radius	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Congenital anomaly of radius	Associated morphology	dysgenese	false	Inferred relationship	Some
Congenital anomaly of radius	Finding site	Connective tissue (substance)	false	Inferred relationship	Some
Congenital anomaly of radius	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of radius	Finding site	Bone structure of radius	true	Inferred relationship	Some	1
Congenital anomaly of radius	Finding site	Upper extremity, including shoulder, arm, forearm, wrist, and hand	false	Inferred relationship	Some	1
Congenital anomaly of radius	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of radius	Is a	Finding of bone of upper limb	true	Inferred relationship	Some
Congenital anomaly of radius	Finding site	Bone structure of radius	false	Inferred relationship	Some	1
Congenital anomaly of radius	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of radius	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of radius	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Congenital anomaly of radius	Finding site	Bone structure of radius	false	Inferred relationship	Some	2
Congenital anomaly of radius	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of radius	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital anomaly of radius	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hypoplasia of radius	Is a	False	Congenital anomaly of radius	Inferred relationship	Some
Longitudinal deficiency of radius	Is a	False	Congenital anomaly of radius	Inferred relationship	Some
Congenital abnormal fusion of radius	Is a	True	Congenital anomaly of radius	Inferred relationship	Some
Congenital abnormal shape of radius	Is a	True	Congenital anomaly of radius	Inferred relationship	Some
Lack of ossification of radius	Is a	True	Congenital anomaly of radius	Inferred relationship	Some
Congenital hypoplasia of radius	Is a	True	Congenital anomaly of radius	Inferred relationship	Some
Congenital malposition of radius	Is a	True	Congenital anomaly of radius	Inferred relationship	Some
Congenital thickening of radius	Is a	True	Congenital anomaly of radius	Inferred relationship	Some
Incomplete ossification of radius	Is a	True	Congenital anomaly of radius	Inferred relationship	Some
Duplication of radius	Is a	False	Congenital anomaly of radius	Inferred relationship	Some
Humeroradial synostosis	Is a	False	Congenital anomaly of radius	Inferred relationship	Some
Radioulnar synostosis	Is a	False	Congenital anomaly of radius	Inferred relationship	Some
Madelung's deformity	Is a	True	Congenital anomaly of radius	Inferred relationship	Some
Radioulnar dysostosis	Is a	False	Congenital anomaly of radius	Inferred relationship	Some
Congenital absence of radius	Is a	True	Congenital anomaly of radius	Inferred relationship	Some
Longitudinal absence of radius AND ulna	Is a	False	Congenital anomaly of radius	Inferred relationship	Some
Baller-Gerold syndrome	Is a	True	Congenital anomaly of radius	Inferred relationship	Some
Duplication of radius	Is a	True	Congenital anomaly of radius	Inferred relationship	Some
Radioulnar dysostosis	Is a	True	Congenital anomaly of radius	Inferred relationship	Some
A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome.	Is a	True	Congenital anomaly of radius	Inferred relationship	Some
A rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (including facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.	Is a	True	Congenital anomaly of radius	Inferred relationship	Some
A rare genetic limb reduction defects syndrome with characteristics of bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (for example 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 anomaly of radius	Inferred relationship	Some
Radial aplasia-thrombocytopenia syndrome	Is a	False	Congenital anomaly of radius	Inferred relationship	Some
Partial radial absence	Is a	False	Congenital anomaly of radius	Inferred relationship	Some
Congenital dislocation of radial head (disorder)	Is a	True	Congenital anomaly of radius	Inferred relationship	Some
Mesomelic dysplasia of upper limb (disorder)	Is a	True	Congenital anomaly of radius	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
192048011	Congenital anomaly of radius	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
726514016	Congenital anomaly of radius (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1877291000005119	Kongenit anomali i radius	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)