702351004: Spondylocarpotarsal synostosis syndrome (disorder)

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

\Genetic disease\Hereditary disease\...

\Developmental hereditary disorder\Spondylocarpotarsal synostosis syndrome

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spondylocarpotarsal synostosis syndrome

\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondylocarpotarsal synostosis syndrome

\Developmental disorder\Developmental hereditary disorder\Spondylocarpotarsal synostosis syndrome
\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondylocarpotarsal synostosis syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
2994974015	Congenital scoliosis with unilateral unsegmented bar	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
2995417017	Spondylocarpotarsal synostosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
2995465016	Spondylocarpotarsal synostosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
2995511019	Congenital synspondylism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
2995731018	Vertebral fusion with carpal coalition	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
3694731000052119	spondylokarpotarsal synostos-syndrom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondylocarpotarsal synostosis syndrome	Is a	Osteochondrodysplasia syndrome	true	Inferred relationship	Some
Spondylocarpotarsal synostosis syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Spondylocarpotarsal synostosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Spondylocarpotarsal synostosis syndrome	Associated morphology	Developmental anomaly (morphologic abnormality)	false	Inferred relationship	Some	1
Spondylocarpotarsal synostosis syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Spondylocarpotarsal synostosis syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Spondylocarpotarsal synostosis syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets