253926000: Phocomelia 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 (disorder)\Congenital absence of part of upper limb\Phocomelia 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 (disorder)\Congenital absence of part of upper limb\Phocomelia of upper limb (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Phocomelia of upper limb (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia\Phocomelia of upper limb (disorder)
\Finding of limb structure\Finding of upper limb\Absence of upper limb (finding)\Congenital absence of upper limb (disorder)\Congenital absence of part of upper limb\Phocomelia 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 (disorder)\Congenital absence of part of upper limb\Phocomelia of upper limb (disorder)

\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of part of upper limb\Phocomelia of upper limb (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of part of upper limb\Phocomelia of upper limb (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Phocomelia of upper limb (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia\Phocomelia of upper limb (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of part of upper limb\Phocomelia of upper limb (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Phocomelia of upper limb (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia\Phocomelia of upper limb (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of part of upper limb\Phocomelia of upper limb (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Phocomelia of upper limb (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia\Phocomelia of upper limb (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Phocomelia of upper limb (disorder)	Is a	Reduction deformity of upper limb	false	Inferred relationship	Some
Phocomelia of upper limb (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some
Phocomelia of upper limb (disorder)	Finding site	Musculoskeletal structure of upper limb	false	Inferred relationship	Some	1
Phocomelia of upper limb (disorder)	Finding site	Limb structure	false	Inferred relationship	Some	2
Phocomelia of upper limb (disorder)	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	1
Phocomelia of upper limb (disorder)	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	5
Phocomelia of upper limb (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Phocomelia of upper limb (disorder)	Associated morphology	Congenital partial absence	false	Inferred relationship	Some	1
Phocomelia of upper limb (disorder)	Finding site	Upper limb structure	false	Inferred relationship	Some	1
Phocomelia of upper limb (disorder)	Is a	Congenital anomaly of musculoskeletal system	false	Inferred relationship	Some
Phocomelia of upper limb (disorder)	Is a	Partial congenital absence of limb	false	Inferred relationship	Some
Phocomelia of upper limb (disorder)	Is a	Congenital absence of part of arm	false	Inferred relationship	Some
Phocomelia of upper limb (disorder)	Is a	Congenital absence of upper limb (disorder)	false	Inferred relationship	Some
Phocomelia of upper limb (disorder)	Is a	Reduction deformity of upper limb	false	Inferred relationship	Some
Phocomelia of upper limb (disorder)	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	2
Phocomelia of upper limb (disorder)	Finding site	Upper limb structure	false	Inferred relationship	Some	2
Phocomelia of upper limb (disorder)	Finding site	Musculoskeletal structure of upper limb	false	Inferred relationship	Some	1
Phocomelia of upper limb (disorder)	Associated morphology	Congenital partial absence	false	Inferred relationship	Some	1
Phocomelia of upper limb (disorder)	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	2
Phocomelia of upper limb (disorder)	Finding site	Upper limb structure	false	Inferred relationship	Some	2
Phocomelia of upper limb (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	1
Phocomelia of upper limb (disorder)	Finding site	Musculoskeletal structure of upper limb	false	Inferred relationship	Some	1
Phocomelia of upper limb (disorder)	Is a	Disorder of musculoskeletal system	false	Inferred relationship	Some
Phocomelia of upper limb (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Phocomelia of upper limb (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Phocomelia of upper limb (disorder)	Finding site	Upper limb structure	false	Inferred relationship	Some	2
Phocomelia of upper limb (disorder)	Is a	Congenital anomaly of upper limb	false	Inferred relationship	Some
Phocomelia of upper limb (disorder)	Is a	Absence of upper limb (finding)	false	Inferred relationship	Some
Phocomelia of upper limb (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	2
Phocomelia of upper limb (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Phocomelia of upper limb (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Phocomelia of upper limb (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Phocomelia of upper limb (disorder)	Is a	Phocomelia	true	Inferred relationship	Some
Phocomelia of upper limb (disorder)	Is a	Congenital absence of part of upper limb	true	Inferred relationship	Some
Phocomelia of upper limb (disorder)	Finding site	Upper extremity part	true	Inferred relationship	Some	1
Phocomelia of upper limb (disorder)	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Longitudinal absence of radius AND ulna (disorder)	Is a	True	Phocomelia of upper limb (disorder)	Inferred relationship	Some
Congenital absence of humerus	Is a	False	Phocomelia of upper limb (disorder)	Inferred relationship	Some
Incomplete congenital absence of arm AND forearm	Is a	False	Phocomelia of upper limb (disorder)	Inferred relationship	Some
Complete phocomelia of upper limb	Is a	True	Phocomelia of upper limb (disorder)	Inferred relationship	Some
Phocomelia of upper limb NOS	Is a	False	Phocomelia of upper limb (disorder)	Inferred relationship	Some
Congenital absence of upper arm AND forearm	Is a	False	Phocomelia 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
378040017	Phocomelia of upper limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3783598013	Phocomelia of upper limb (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5879171000172117	phocomélie congénitale du membre supérieur	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5121421000172119	focomelie van bovenste extremiteit	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)