703523004: Spondyloenchondrodysplasia with immune dysregulation (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\Spondyloenchondrodysplasia with immune dysregulation

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloenchondrodysplasia with immune dysregulation
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloenchondrodysplasia with immune dysregulation
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spondyloenchondrodysplasia with immune dysregulation
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloenchondrodysplasia with immune dysregulation
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloenchondrodysplasia with immune dysregulation
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia\Spondyloenchondrodysplasia with immune dysregulation
\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\Spondyloenchondrodysplasia with immune dysregulation
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia\Spondyloenchondrodysplasia with immune dysregulation
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia\Spondyloenchondrodysplasia with immune dysregulation
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia\Spondyloenchondrodysplasia with immune dysregulation
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia\Spondyloenchondrodysplasia with immune dysregulation
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia\Spondyloenchondrodysplasia with immune dysregulation
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia\Spondyloenchondrodysplasia with immune dysregulation
\Disease\Developmental disorder\Developmental hereditary disorder\Spondyloenchondrodysplasia with immune dysregulation
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia\Spondyloenchondrodysplasia with immune dysregulation
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia\Spondyloenchondrodysplasia with immune dysregulation
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia\Spondyloenchondrodysplasia with immune dysregulation
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia\Spondyloenchondrodysplasia with immune dysregulation

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	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Spondyloenchondrodysplasia with immune dysregulation	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Spondyloenchondrodysplasia with immune dysregulation	Is a	Spondyloenchondrodysplasia	true	Inferred relationship	Some
Spondyloenchondrodysplasia with immune dysregulation	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Spondyloenchondrodysplasia with immune dysregulation	Occurrence	Congenital	false	Inferred relationship	Some	2
Spondyloenchondrodysplasia with immune dysregulation	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Spondyloenchondrodysplasia with immune dysregulation	Finding site	Bone structure	false	Inferred relationship	Some	2
Spondyloenchondrodysplasia with immune dysregulation	Occurrence	Congenital	true	Inferred relationship	Some	1
Spondyloenchondrodysplasia with immune dysregulation	Finding site	Bone structure	true	Inferred relationship	Some	1
Spondyloenchondrodysplasia with immune dysregulation	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Spondyloenchondrodysplasia with immune dysregulation	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Spondyloenchondrodysplasia with immune dysregulation	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Spondyloenchondrodysplasia with immune dysregulation	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Spondyloenchondrodysplasia with immune dysregulation	Interprets	Height / growth measure	true	Inferred relationship	Some	2

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
7658851000172117	dysplasie spondyloenchondrale associée à un dérèglement immunitaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
11468981000172114	dysplasie spondylo-enchondrale associée à une dysrégulation immunitaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5531261000172119	gecombineerde immunodeficiëntie met auto-immuniteit en spondylometafysaire dysplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5531271000172111	syndroom van Roifman-Melamed	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5531281000172114	spondylo-enchondrodysplasie met immunodisregulatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)