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360526007: Congenital absence of upper limb (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb
\Finding of limb structure\Finding of upper limb\Absence of upper limb (finding)\Congenital absence of upper limb
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

476398012 Congenital absence of upper limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

740659018 Congenital absence of upper limb (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2024551000005115 Kongenit manglende overekstremitet 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 absence of upper limb	Is a	Reduction deformity of upper limb	false	Inferred relationship	Some
Congenital absence of upper limb	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	1
Congenital absence of upper limb	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	5
Congenital absence of upper limb	Occurrence	Congenital	false	Inferred relationship	Some
Congenital absence of upper limb	Finding site	Limb structure	false	Inferred relationship	Some	2
Congenital absence of upper limb	Associated morphology	kongenit partiel mangel	false	Inferred relationship	Some	1
Congenital absence of upper limb	Finding site	Upper extremity, including shoulder, arm, forearm, wrist, and hand	false	Inferred relationship	Some	1
Congenital absence of upper limb	Finding site	Musculoskeletal structure of upper limb	false	Inferred relationship	Some	1
Congenital absence of upper limb	Associated morphology	dysgenese	false	Inferred relationship	Some
Congenital absence of upper limb	Is a	Congenital anomaly of musculoskeletal system	false	Inferred relationship	Some
Congenital absence of upper limb	Is a	Congenital complete absence of limb	false	Inferred relationship	Some
Congenital absence of upper limb	Is a	Congenital anomaly of upper limb	true	Inferred relationship	Some
Congenital absence of upper limb	Finding site	Upper extremity part	false	Inferred relationship	Some	1
Congenital absence of upper limb	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of upper limb	Is a	Reduction deformity of upper limb	false	Inferred relationship	Some
Congenital absence of upper limb	Finding site	Upper extremity part	false	Inferred relationship	Some	1
Congenital absence of upper limb	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of upper limb	Is a	manglende arm	false	Inferred relationship	Some
Congenital absence of upper limb	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Congenital absence of upper limb	Is a	Absence of upper limb (finding)	true	Inferred relationship	Some
Congenital absence of upper limb	Finding site	Upper extremity, including shoulder, arm, forearm, wrist, and hand	false	Inferred relationship	Some	2
Congenital absence of upper limb	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital absence of upper limb	Finding site	Upper extremity, including shoulder, arm, forearm, wrist, and hand	true	Inferred relationship	Some	1
Congenital absence of upper limb	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of upper limb	Is a	Congenital absence	false	Inferred relationship	Some
Congenital absence of upper limb	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital absence of upper limb	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Transversel ameli af arm på underarmsniveau	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Transverse deficiency of arm, upper arm level - short	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Transverse deficiency of arm, upper arm level - long	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Talipomanus	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Congenital absence of all fingers	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Congenital absence of upper arm AND forearm	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Congenital absence of hand	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Congenital complete absence of upper limb	Is a	True	Congenital absence of upper limb	Inferred relationship	Some
Kongenit manglende fingre	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Congenital absence of hand (disorder)	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Congenital absence of finger	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Congenital absence of ulna	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Transversel ameli af overekstremitet	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Rudimentær arm	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Acephalocheiria	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Hemimeli af overekstremitet	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Congenital absence of radius	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Congenital absence of carpal bone	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Congenital absence of forepaw phalanx	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Congenital absence of metacarpal bone	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Congenital absence of scapula	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Congenital amputation of upper limb	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Phocomelia of upper limb	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Congenital absence of humerus	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Congenital absence of upper arm AND forearm	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly. Various anomalies of the breasts and nipples, and variable involvement of the hand and forearm (some patients having normal hands) have also been reported. The absence of other muscles around the shoulder girdle is a frequent feature. The syndrome is thought to be of vascular origin, for example a result of a disruption in the blood supply in the subclavian artery. Poland syndrome is most commonly a sporadic condition, but rare familial cases have been reported, compatible with an autosomal dominant mode of inheritance.	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Kongenit manglende underarm med hånd OG fingre	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Congenital absence of part of upper limb	Is a	True	Congenital absence of upper limb	Inferred relationship	Some
Acephalobrachius	Is a	True	Congenital absence of upper limb	Inferred relationship	Some
Congenital amputation of upper limb	Is a	True	Congenital absence of upper limb	Inferred relationship	Some
Constriction ring of upper limb with acrosyndactyly and amputation	Is a	False	Congenital absence of upper limb	Inferred relationship	Some
Congenital absence of right upper limb (disorder)	Is a	True	Congenital absence of upper limb	Inferred relationship	Some
Congenital absence of left upper limb (disorder)	Is a	True	Congenital absence of upper limb	Inferred relationship	Some

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
476398012	Congenital absence of upper limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
740659018	Congenital absence of upper limb (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2024551000005115	Kongenit manglende overekstremitet	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)