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

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Skeletal dysplasia with epilepsy and short stature syndrome (disorder)

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

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

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3302589014 Gurrieri Sammito Bellussi syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3304136018 Skeletal dysplasia with epilepsy and short stature syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

3871501000052118 syndrom med skelettdysplasi med epilepsi och kortvuxenhet sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302589014	Gurrieri Sammito Bellussi syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3304136018	Skeletal dysplasia with epilepsy and short stature syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3871501000052118	syndrom med skelettdysplasi med epilepsi och kortvuxenhet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)