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 (disorder)\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

2994974015 Congenital scoliosis with unilateral unsegmented bar en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995417017 Spondylocarpotarsal synostosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995465016 Spondylocarpotarsal synostosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995511019 Congenital synspondylism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995731018 Vertebral fusion with carpal coalition en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

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)

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	utvecklingsabnormitet	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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Active

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This concept is not in any reference sets