703523004: Spondyloenchondrodysplasia with immune dysregulation (disorder)

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

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

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

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

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

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondyloenchondrodysplasia with immune dysregulation (disorder)	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloenchondrodysplasia with immune dysregulation (disorder)	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloenchondrodysplasia with immune dysregulation (disorder)	Is a	Spondyloenchondrodysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloenchondrodysplasia with immune dysregulation (disorder)	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloenchondrodysplasia with immune dysregulation (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spondyloenchondrodysplasia with immune dysregulation (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spondyloenchondrodysplasia with immune dysregulation (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spondyloenchondrodysplasia with immune dysregulation (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondyloenchondrodysplasia with immune dysregulation (disorder)	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondyloenchondrodysplasia with immune dysregulation (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondyloenchondrodysplasia with immune dysregulation (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondyloenchondrodysplasia with immune dysregulation (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondyloenchondrodysplasia with immune dysregulation (disorder)	Is a	Developmental hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloenchondrodysplasia with immune dysregulation (disorder)	Interprets	Height / growth measure (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spondyloenchondrodysplasia with immune dysregulation (disorder)	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Spondyloenchondrodysplasia with immune dysregulation (disorder)	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Spondyloenchondrodysplasia with immune dysregulation (disorder)	Is a	Autoimmune disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloenchondrodysplasia with immune dysregulation (disorder)	Pathological process (attribute)	Autoimmune process	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3008900013	Roifman-Melamed syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3008983013	Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009010014	Spondyloenchondrodysplasia with immune dysregulation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009635019	Roifman-Costa syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3009658016	Spondyloenchondrodysplasia with immune dysregulation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3008900013	Roifman-Melamed syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3008983013	Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3008983013	Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009010014	Spondyloenchondrodysplasia with immune dysregulation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3009010014	Spondyloenchondrodysplasia with immune dysregulation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009635019	Roifman-Costa syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3009658016	Spondyloenchondrodysplasia with immune dysregulation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3009658016	Spondyloenchondrodysplasia with immune dysregulation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5452141000241119	dysplasie spondyloenchondrale associée à une dysrégulation immunitaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5452141000241119	dysplasie spondyloenchondrale associée à une dysrégulation immunitaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module