254079002: Spondyloenchondrodysplasia (disorder)

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

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloenchondrodysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia

\Disease\Genetic disease\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Spondyloenchondrodysplasia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloenchondrodysplasia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Spondyloenchondrodysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloenchondrodysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spondyloenchondrodysplasia
\Disease\Disorder of immune function (disorder)\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Spondyloenchondrodysplasia
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Spondyloenchondrodysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia
\Disease\Disorder of body system\Disorder of immune structure (disorder)\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Spondyloenchondrodysplasia
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Spondyloenchondrodysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloenchondrodysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Spondyloenchondrodysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloenchondrodysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia
\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\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Spondyloenchondrodysplasia
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Spondyloenchondrodysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378232016 Spondyloenchondrodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

644921015 Spondyloenchondrodysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondyloenchondrodysplasia	Is a	Metaphyseal chondrodysplasia	true	Inferred relationship	Some
Spondyloenchondrodysplasia	Occurrence	Congenital	false	Inferred relationship	Some
Spondyloenchondrodysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Spondyloenchondrodysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Spondyloenchondrodysplasia	Finding site	Bone structure	true	Inferred relationship	Some	1
Spondyloenchondrodysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Spondyloenchondrodysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Spondyloenchondrodysplasia	Finding site	Bone structure	false	Inferred relationship	Some	1
Spondyloenchondrodysplasia	Occurrence	Congenital	false	Inferred relationship	Some	2
Spondyloenchondrodysplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Spondyloenchondrodysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Spondyloenchondrodysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Spondyloenchondrodysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Spondyloenchondrodysplasia	Interprets	Height / growth measure	true	Inferred relationship	Some	2
Spondyloenchondrodysplasia	Is a	Type I interferonopathy	true	Inferred relationship	Some
Spondyloenchondrodysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Spondyloenchondrodysplasia	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Spondyloenchondrodysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Spondyloenchondrodysplasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Spondyloenchondrodysplasia	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	3
Spondyloenchondrodysplasia	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	3
Spondyloenchondrodysplasia	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Spondyloenchondrodysplasia with immune dysregulation	Is a	True	Spondyloenchondrodysplasia	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378232016	Spondyloenchondrodysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644921015	Spondyloenchondrodysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core