47713000: Congenital absence of humerus (disorder)

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

\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Disorder of upper arm\Congenital absence of part of upper arm\Congenital absence of humerus
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Disorder of upper arm\Congenital anomaly of humerus (disorder)\Congenital absence of humerus
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of part of upper limb (disorder)\Congenital absence of part of upper arm\Congenital absence of humerus
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of humerus (disorder)\Congenital absence of humerus
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of part of upper limb (disorder)\Congenital absence of part of upper arm\Congenital absence of humerus
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of humerus (disorder)\Congenital absence of humerus
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb (disorder)\Congenital absence of part of upper arm\Congenital absence of humerus
\Finding of limb structure (finding)\Finding of upper limb\Absence of upper limb (finding)\Absence of upper arm\Congenital absence of part of upper arm\Congenital absence of humerus
\Finding of limb structure (finding)\Finding of upper limb\Absence of upper limb (finding)\Congenital absence of upper limb (disorder)\Congenital absence of part of upper limb (disorder)\Congenital absence of part of upper arm\Congenital absence of humerus
\Finding of limb structure (finding)\Finding of upper limb\Absence of upper limb (finding)\Absence of bone in arm (finding)\Congenital absence of humerus
\Finding of limb structure (finding)\Finding of upper limb\Finding of bone of upper limb\Absence of bone in arm (finding)\Congenital absence of humerus
\Finding of limb structure (finding)\Finding of upper limb\Finding of bone of upper limb\Congenital anomaly of humerus (disorder)\Congenital absence of humerus
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of upper arm\Congenital absence of part of upper arm\Congenital absence of humerus
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of upper arm\Congenital anomaly of humerus (disorder)\Congenital absence of humerus
\Finding of limb structure (finding)\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 (disorder)\Congenital absence of part of upper arm\Congenital absence of humerus
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of humerus (disorder)\Congenital absence of humerus

\Musculoskeletal finding (finding)\Bone finding\Finding of bone of upper limb\Absence of bone in arm (finding)\Congenital absence of humerus
\Musculoskeletal finding (finding)\Bone finding\Finding of bone of upper limb\Congenital anomaly of humerus (disorder)\Congenital absence of humerus
\Musculoskeletal finding (finding)\Bone finding\Bone absent (finding)\Absence of bone in arm (finding)\Congenital absence of humerus
\Musculoskeletal finding (finding)\Bone finding\Bone absent (finding)\Congenital absence of skeletal bone\Congenital absence of humerus
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of humerus
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of humerus (disorder)\Congenital absence of humerus
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of humerus
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of humerus (disorder)\Congenital absence of humerus
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of humerus
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of humerus (disorder)\Congenital absence of humerus

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of humerus
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of humerus (disorder)\Congenital absence of humerus
\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 (disorder)\Congenital absence of part of upper limb (disorder)\Congenital absence of part of upper arm\Congenital absence of humerus
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of humerus (disorder)\Congenital absence of humerus
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb (disorder)\Congenital absence of part of upper arm\Congenital absence of humerus
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of humerus
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of humerus (disorder)\Congenital absence of humerus
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of humerus
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of humerus (disorder)\Congenital absence of humerus
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Disorder of upper arm\Congenital absence of part of upper arm\Congenital absence of humerus
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Disorder of upper arm\Congenital anomaly of humerus (disorder)\Congenital absence of humerus
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of part of upper limb (disorder)\Congenital absence of part of upper arm\Congenital absence of humerus
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of humerus (disorder)\Congenital absence of humerus
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of part of upper limb (disorder)\Congenital absence of part of upper arm\Congenital absence of humerus
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of humerus (disorder)\Congenital absence of humerus
\Disease\Disorder of limb\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb (disorder)\Congenital absence of part of upper arm\Congenital absence of humerus
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of humerus
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of humerus (disorder)\Congenital absence of humerus
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of humerus
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of humerus (disorder)\Congenital absence of humerus
\Disease\Developmental disorder (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 (disorder)\Congenital absence of part of upper arm\Congenital absence of humerus
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of humerus (disorder)\Congenital absence of humerus
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb (disorder)\Congenital absence of part of upper arm\Congenital absence of humerus

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital absence of humerus	Is a	Congenital absence of skeletal bone	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of humerus	Is a	Congenital anomaly of humerus (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of humerus	Is a	Phocomelia of upper limb	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of humerus	Is a	Acquired deformity of upper limb	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of humerus	Finding site	Connective tissue	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of humerus	Finding site	Bone structure of humerus	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of humerus	Associated morphology	Congenital partial absence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of humerus	Finding site	Upper limb structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of humerus	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of humerus	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Congenital absence of humerus	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of humerus	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of humerus	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of humerus	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of humerus	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of humerus	Is a	raccourcissement congénital d'un bras	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of humerus	Is a	Longitudinal deficiency of humerus	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of humerus	Is a	Congenital anomaly of humerus (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of humerus	Is a	Congenital absence of upper limb (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of humerus	Is a	Congenital absence part of arm (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of humerus	Finding site	Bone structure of humerus	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of humerus	Associated morphology	Congenital partial absence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of humerus	Is a	Absence of bone in arm (finding)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of humerus	Is a	Congenital absence of part of upper arm	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of humerus	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of humerus	Finding site	Bone structure of humerus	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of humerus	Is a	Congenital absence of part of upper limb (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of humerus	Is a	Absence of upper arm	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of humerus	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of humerus	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of humerus	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of humerus	Associated morphology	Agenesis (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of humerus	Finding site	Entire humerus (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of humerus	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Agenesis of humerus (disorder)	Is a	False	Congenital absence of humerus	Inferred relationship	Existential restriction modifier (core metadata concept)
An extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.	Is a	False	Congenital absence of humerus	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of humerus	Is a	True	Congenital absence of humerus	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
79512011	Congenital absence of humerus	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
79513018	Proximal phocomelia of upper limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
785202010	Congenital absence of humerus (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1230510012	Congenital absence of upper arm only	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
79512011	Congenital absence of humerus	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
79512011	Congenital absence of humerus	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
79513018	Proximal phocomelia of upper limb	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
79513018	Proximal phocomelia of upper limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
79514012	Agenesis of humerus	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
79514012	Agenesis of humerus	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
785202010	Congenital absence of humerus (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
785202010	Congenital absence of humerus (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1230510012	Congenital absence of upper arm only	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1230510012	Congenital absence of upper arm only	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4546011000241116	absence congénitale de l'humérus	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4546011000241116	absence congénitale de l'humérus	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module