205306000: Congenital complete 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\Congenital complete absence of upper limb (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of upper limb (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb (disorder)
\Finding of limb structure\Finding of upper limb\Absence of upper limb (finding)\Congenital absence of upper limb\Congenital complete absence of upper limb (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb (disorder)

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of upper limb (disorder)
\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 complete absence of upper limb (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of upper limb (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of upper limb (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital complete absence of upper limb (disorder)	Is a	Congenital absence of upper limb	true	Inferred relationship	Some
Congenital complete absence of upper limb (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Congenital complete absence of upper limb (disorder)	Associated morphology	Abnormally short growth (morphologic abnormality)	false	Inferred relationship	Some	1
Congenital complete absence of upper limb (disorder)	Associated morphology	Abnormally short growth (morphologic abnormality)	false	Inferred relationship	Some	2
Congenital complete absence of upper limb (disorder)	Finding site	Limb structure	false	Inferred relationship	Some	2
Congenital complete absence of upper limb (disorder)	Associated morphology	Congenital partial absence	false	Inferred relationship	Some	1
Congenital complete absence of upper limb (disorder)	Finding site	Musculoskeletal structure of upper limb	false	Inferred relationship	Some	1
Congenital complete absence of upper limb (disorder)	Finding site	Upper extremity, including shoulder, arm, forearm, wrist, and hand	false	Inferred relationship	Some	1
Congenital complete absence of upper limb (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Some
Congenital complete absence of upper limb (disorder)	Is a	Congenital anomaly of musculoskeletal system	false	Inferred relationship	Some
Congenital complete absence of upper limb (disorder)	Is a	Congenital absence of part of arm	false	Inferred relationship	Some
Congenital complete absence of upper limb (disorder)	Is a	Partial congenital absence of limb	false	Inferred relationship	Some
Congenital complete absence of upper limb (disorder)	Is a	Reduction deformity of upper limb	false	Inferred relationship	Some
Congenital complete absence of upper limb (disorder)	Is a	Deformity (finding)	false	Inferred relationship	Some
Congenital complete absence of upper limb (disorder)	Finding site	Musculoskeletal structure of upper limb	false	Inferred relationship	Some	1
Congenital complete absence of upper limb (disorder)	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital complete absence of upper limb (disorder)	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital complete absence of upper limb (disorder)	Finding site	Musculoskeletal structure of upper limb	false	Inferred relationship	Some	1
Congenital complete absence of upper limb (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital complete absence of upper limb (disorder)	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Congenital complete absence of upper limb (disorder)	Finding site	Entire upper limb	false	Inferred relationship	Some	2
Congenital complete absence of upper limb (disorder)	Is a	Congenital complete absence of limb	true	Inferred relationship	Some
Congenital complete absence of upper limb (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital complete absence of upper limb (disorder)	Finding site	Entire upper limb	true	Inferred relationship	Some	1
Congenital complete absence of upper limb (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital complete absence of upper limb (disorder)	Associated morphology	Agenesis (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital complete absence of upper limb (disorder)	Is a	Congenital anomaly of upper limb	false	Inferred relationship	Some
Congenital complete absence of upper limb (disorder)	Is a	Absence of upper limb (finding)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A genetic syndrome characterized by the absence of all four limbs.	Is a	False	Congenital complete absence of upper limb (disorder)	Inferred relationship	Some
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Is a	False	Congenital complete absence of upper limb (disorder)	Inferred relationship	Some
Congenital amputation of upper limb	Is a	False	Congenital complete absence of upper limb (disorder)	Inferred relationship	Some
Omocephalus	Is a	True	Congenital complete absence of upper limb (disorder)	Inferred relationship	Some
A rare disorder characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non-consanguineous parents.	Is a	False	Congenital complete absence of upper limb (disorder)	Inferred relationship	Some
Congenital complete absence of bilateral upper limbs (disorder)	Is a	False	Congenital complete absence of upper limb (disorder)	Inferred relationship	Some
Congenital complete absence of left upper limb	Is a	True	Congenital complete absence of upper limb (disorder)	Inferred relationship	Some
Congenital complete absence of right upper limb (disorder)	Is a	True	Congenital complete absence of upper limb (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
314832019	Congenital complete absence of upper limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
590651019	Congenital complete absence of upper limb (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3038737011	Transverse deficiency of arm, shoulder level	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3038742015	Amelia of upper limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4884381000241110	agénésie du membre supérieur	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3396541001000112	Amelie der oberen Extremitäten	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module