715428003: Skeletal dysplasia with epilepsy and short stature syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Skeletal dysplasia with epilepsy and short stature syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Skeletal dysplasia with epilepsy and short stature syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Skeletal dysplasia with epilepsy and short stature syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Skeletal dysplasia with epilepsy and short stature syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Skeletal dysplasia with epilepsy and short stature syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Skeletal dysplasia with epilepsy and short stature syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Skeletal dysplasia with epilepsy and short stature syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Skeletal dysplasia with epilepsy and short stature syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Skeletal dysplasia with epilepsy and short stature syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Skeletal dysplasia with epilepsy and short stature syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Skeletal dysplasia with epilepsy and short stature syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Skeletal dysplasia with epilepsy and short stature syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Skeletal dysplasia with epilepsy and short stature syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Skeletal dysplasia with epilepsy and short stature syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Skeletal dysplasia with epilepsy and short stature syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Skeletal dysplasia with epilepsy and short stature syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Skeletal dysplasia with epilepsy and short stature syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Skeletal dysplasia with epilepsy and short stature syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Skeletal dysplasia with epilepsy and short stature syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Skeletal dysplasia with epilepsy and short stature syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Skeletal dysplasia with epilepsy and short stature syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Skeletal dysplasia with epilepsy and short stature syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Skeletal dysplasia with epilepsy and short stature syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Skeletal dysplasia with epilepsy and short stature syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Skeletal dysplasia with epilepsy and short stature syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Skeletal dysplasia with epilepsy and short stature syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Skeletal dysplasia with epilepsy and short stature syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Skeletal dysplasia with epilepsy and short stature syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Skeletal dysplasia with epilepsy and short stature syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3302587011 Skeletal dysplasia with epilepsy and short stature syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3302589014 Gurrieri Sammito Bellussi syndrome en Synonym Active Case sensitive SNOMED CT core

3304136018 Skeletal dysplasia with epilepsy and short stature syndrome en Synonym Active Case insensitive SNOMED CT core

3302590017 Moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Skeletal dysplasia with epilepsy and short stature syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Skeletal dysplasia with epilepsy and short stature syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Skeletal dysplasia with epilepsy and short stature syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Skeletal dysplasia with epilepsy and short stature syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Skeletal dysplasia with epilepsy and short stature syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	2
Skeletal dysplasia with epilepsy and short stature syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	3
Skeletal dysplasia with epilepsy and short stature syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Skeletal dysplasia with epilepsy and short stature syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Skeletal dysplasia with epilepsy and short stature syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Skeletal dysplasia with epilepsy and short stature syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Skeletal dysplasia with epilepsy and short stature syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Skeletal dysplasia with epilepsy and short stature syndrome	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Some
Skeletal dysplasia with epilepsy and short stature syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Skeletal dysplasia with epilepsy and short stature syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Skeletal dysplasia with epilepsy and short stature syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Skeletal dysplasia with epilepsy and short stature syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Skeletal dysplasia with epilepsy and short stature syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Skeletal dysplasia with epilepsy and short stature syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Skeletal dysplasia with epilepsy and short stature syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

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

Unit of use quantity reference set

Description inactivation indicator reference set

REPLACED BY association reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3302587011	Skeletal dysplasia with epilepsy and short stature syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3302589014	Gurrieri Sammito Bellussi syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3304136018	Skeletal dysplasia with epilepsy and short stature syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3302590017	Moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait.	en	Definition	Active	Case sensitive	SNOMED CT core