726116007: Congenital anomaly of bone of shoulder girdle (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of shoulder region (disorder)\Congenital anomaly of bone of shoulder girdle (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of bone of shoulder girdle (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of bone of shoulder girdle (disorder)
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Congenital anomaly of bone of shoulder girdle (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of shoulder region (disorder)\Congenital anomaly of bone of shoulder girdle (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of bone of shoulder girdle (disorder)
\Finding of limb structure\Finding of upper limb\Finding of shoulder region\Disorder of shoulder region (disorder)\Congenital anomaly of bone of shoulder girdle (disorder)

\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Congenital anomaly of bone of shoulder girdle (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle (disorder)

\Disease\Disorder of joint region\Disorder of shoulder region (disorder)\Congenital anomaly of bone of shoulder girdle (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of bone of shoulder girdle (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of shoulder region (disorder)\Congenital anomaly of bone of shoulder girdle (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of bone of shoulder girdle (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of bone of shoulder girdle (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of bone of shoulder girdle (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3448299011 Congenital anomaly of bone of shoulder girdle (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3448300015 Congenital anomaly of bone of shoulder girdle en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3448301016 Structural developmental anomaly of shoulder girdle en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of bone of shoulder girdle (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Congenital anomaly of bone of shoulder girdle (disorder)	Is a	fund vedr. kropsregion	false	Inferred relationship	Some
Congenital anomaly of bone of shoulder girdle (disorder)	Associated morphology	dysgenese	false	Inferred relationship	Some	1
Congenital anomaly of bone of shoulder girdle (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of bone of shoulder girdle (disorder)	Finding site	Bone structure of shoulder girdle	true	Inferred relationship	Some	1
Congenital anomaly of bone of shoulder girdle (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital anomaly of bone of shoulder girdle (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital anomaly of bone of shoulder girdle (disorder)	Is a	Congenital anomaly of upper limb	true	Inferred relationship	Some
Congenital anomaly of bone of shoulder girdle (disorder)	Is a	Disorder of shoulder region (disorder)	true	Inferred relationship	Some
Congenital anomaly of bone of shoulder girdle (disorder)	Is a	Finding of bone of upper limb	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cleidocranial dysostosis	Is a	True	Congenital anomaly of bone of shoulder girdle (disorder)	Inferred relationship	Some
Congenital pseudoarthrosis of clavicle (disorder)	Is a	True	Congenital anomaly of bone of shoulder girdle (disorder)	Inferred relationship	Some
Congenital abnormal shape of clavicle	Is a	True	Congenital anomaly of bone of shoulder girdle (disorder)	Inferred relationship	Some
Congenital hypoplasia of clavicle	Is a	True	Congenital anomaly of bone of shoulder girdle (disorder)	Inferred relationship	Some
Congenital thickening of clavicle	Is a	True	Congenital anomaly of bone of shoulder girdle (disorder)	Inferred relationship	Some
Incomplete ossification of clavicle	Is a	True	Congenital anomaly of bone of shoulder girdle (disorder)	Inferred relationship	Some
Lack of ossification of clavicle	Is a	True	Congenital anomaly of bone of shoulder girdle (disorder)	Inferred relationship	Some
Congenital anomaly of scapula	Is a	True	Congenital anomaly of bone of shoulder girdle (disorder)	Inferred relationship	Some
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.	Is a	False	Congenital anomaly of bone of shoulder girdle (disorder)	Inferred relationship	Some
Congenital deformity of clavicle	Is a	False	Congenital anomaly of bone of shoulder girdle (disorder)	Inferred relationship	Some
Congenital absence of scapula	Is a	False	Congenital anomaly of bone of shoulder girdle (disorder)	Inferred relationship	Some
Agenesis of clavicle	Is a	False	Congenital anomaly of bone of shoulder girdle (disorder)	Inferred relationship	Some
Agenesis of scapula (disorder)	Is a	False	Congenital anomaly of bone of shoulder girdle (disorder)	Inferred relationship	Some
Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.	Is a	True	Congenital anomaly of bone of shoulder girdle (disorder)	Inferred relationship	Some
Aplasia of clavicle	Is a	True	Congenital anomaly of bone of shoulder girdle (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3448299011	Congenital anomaly of bone of shoulder girdle (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3448300015	Congenital anomaly of bone of shoulder girdle	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3448301016	Structural developmental anomaly of shoulder girdle	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core