703523004: Spondyloenchondrodysplasia with immune dysregulation (disorder)

SNOMED CT Concept\Clinical finding\...

\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

\General finding of observation of patient\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

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia\Spondyloenchondrodysplasia with immune dysregulation
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondyloenchondrodysplasia with immune dysregulation
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia\Spondyloenchondrodysplasia with immune dysregulation
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia\Spondyloenchondrodysplasia with immune dysregulation
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia\Spondyloenchondrodysplasia with immune dysregulation
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondyloenchondrodysplasia with immune dysregulation
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia\Spondyloenchondrodysplasia with immune dysregulation
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia\Spondyloenchondrodysplasia with immune dysregulation
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia\Spondyloenchondrodysplasia with immune dysregulation
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia\Spondyloenchondrodysplasia with immune dysregulation
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia\Spondyloenchondrodysplasia with immune dysregulation
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia\Spondyloenchondrodysplasia with immune dysregulation
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia\Spondyloenchondrodysplasia with immune dysregulation
\Disease\Developmental disorder\Disorder of bone development\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 anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia\Spondyloenchondrodysplasia with immune dysregulation
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloenchondrodysplasia\Spondyloenchondrodysplasia with immune dysregulation
\Disease\Developmental disorder\Congenital anomaly\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, Primitive. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3008900013 Roifman-Melamed syndrome en Synonym Active Case sensitive SNOMED CT core

3008983013 Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia en Synonym Active Case insensitive SNOMED CT core

3009010014 Spondyloenchondrodysplasia with immune dysregulation en Synonym Active Case insensitive SNOMED CT core

3009635019 Roifman-Costa syndrome en Synonym Active Case sensitive SNOMED CT core

3009658016 Spondyloenchondrodysplasia with immune dysregulation (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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	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
Spondyloenchondrodysplasia with immune dysregulation	Is a	Inherited disorder of connective tissue	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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3008900013	Roifman-Melamed syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3008983013	Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3009010014	Spondyloenchondrodysplasia with immune dysregulation	en	Synonym	Active	Case insensitive	SNOMED CT core
3009635019	Roifman-Costa syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3009658016	Spondyloenchondrodysplasia with immune dysregulation (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core