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38998004: Brachyphalangia (disorder)

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

\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia
\Deformity (finding)\Deformation of bone\Brachyphalangia
\Deformity (finding)\Congenital deformity (disorder)\Congenital deformity of musculoskeletal system (disorder)\Brachyphalangia
\Deformity (finding)\Congenital deformity (disorder)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia

\Finding of limb structure (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia
\Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2007. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachyphalangia	Is a	Brachydactyly	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachyphalangia	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachyphalangia	Finding site	Phalanx structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachyphalangia	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachyphalangia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachyphalangia	Finding site	Musculoskeletal system structure of digit (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachyphalangia	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachyphalangia	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachyphalangia	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachyphalangia	Is a	déformation d'un os	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachyphalangia	Finding site	Phalanx structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachyphalangia	Associated morphology	Abnormally short growth	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachyphalangia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachyphalangia	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachyphalangia	Finding site	Phalanx structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachyphalangia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachyphalangia	Is a	Congenital anomaly of digit	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachyphalangia	Is a	Longitudinal deficiency of part of limb (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachyphalangia	Finding site	Entire phalanx	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachyphalangia	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachyphalangia	Is a	Deformation of bone	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachyphalangia	Is a	Congenital deformity of musculoskeletal system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Brachymesophalangia	Is a	True	Brachyphalangia	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachyphalangia of toe	Is a	True	Brachyphalangia	Inferred relationship	Existential restriction modifier (core metadata concept)
Symbrachydactyly	Is a	False	Brachyphalangia	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachyphalangia of little toe (disorder)	Is a	False	Brachyphalangia	Inferred relationship	Existential restriction modifier (core metadata concept)
Longitudinal deficiency of phalanges of hand (disorder)	Is a	True	Brachyphalangia	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly type A1	Is a	True	Brachyphalangia	Inferred relationship	Existential restriction modifier (core metadata concept)
Caudal appendage-deafness syndrome is characterised by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.	Is a	True	Brachyphalangia	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly and distal symphalangism syndrome (disorder)	Is a	False	Brachyphalangia	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
65413010	Brachyphalangia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
775369012	Brachyphalangia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
65413010	Brachyphalangia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
65413010	Brachyphalangia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
775369012	Brachyphalangia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
775369012	Brachyphalangia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
124611000077115	brachyphalangie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
124611000077115	brachyphalangie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module