722478008: Skeletal dysplasia with intellectual disability syndrome (disorder)

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

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

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Skeletal dysplasia with intellectual disability syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Skeletal dysplasia with intellectual disability syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Skeletal dysplasia with intellectual disability syndrome (disorder)

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylodysplastic group\Skeletal dysplasia with intellectual disability syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Skeletal dysplasia with intellectual disability syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Spondylodysplastic group\Skeletal dysplasia with intellectual disability 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\Spondylodysplastic group\Skeletal dysplasia with intellectual disability syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Skeletal dysplasia with intellectual disability syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Skeletal dysplasia with intellectual disability syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Skeletal dysplasia with intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Skeletal dysplasia with intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Skeletal dysplasia with intellectual disability syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Skeletal dysplasia with intellectual disability syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Skeletal dysplasia with intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Skeletal dysplasia with intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Skeletal dysplasia with intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Spondylodysplastic group\Skeletal dysplasia with intellectual disability 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\Spondylodysplastic group\Skeletal dysplasia with intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Skeletal dysplasia with intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Skeletal dysplasia with intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Skeletal dysplasia with intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylodysplastic group\Skeletal dysplasia with intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Skeletal dysplasia with intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Skeletal dysplasia with intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Skeletal dysplasia with intellectual disability syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3332328018 Skeletal dysplasia with intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3332330016 Skeletal dysplasia with intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3332333019 Christian syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402968012 A rare genetic syndrome characterized by skeletal anomalies, including short stature, ridging of the metopic suture, a fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia, short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402969016 A rare genetic syndrome characterised by skeletal anomalies, including short stature, ridging of the metopic suture, a fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia, short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Skeletal dysplasia with intellectual disability syndrome (disorder)	Is a	Mental retardation	false	Inferred relationship	Some
Skeletal dysplasia with intellectual disability syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Skeletal dysplasia with intellectual disability syndrome (disorder)	Is a	Spondylodysplastic group	true	Inferred relationship	Some
Skeletal dysplasia with intellectual disability syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Skeletal dysplasia with intellectual disability syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Skeletal dysplasia with intellectual disability syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Skeletal dysplasia with intellectual disability syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Skeletal dysplasia with intellectual disability syndrome (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Skeletal dysplasia with intellectual disability syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Skeletal dysplasia with intellectual disability syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Skeletal dysplasia with intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Skeletal dysplasia with intellectual disability syndrome (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Skeletal dysplasia with intellectual disability syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Skeletal dysplasia with intellectual disability syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Skeletal dysplasia with intellectual disability syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Skeletal dysplasia with intellectual disability syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Skeletal dysplasia with intellectual disability syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Skeletal dysplasia with intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	2
Skeletal dysplasia with intellectual disability syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Skeletal dysplasia with intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3332328018	Skeletal dysplasia with intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3332330016	Skeletal dysplasia with intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3332333019	Christian syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402968012	A rare genetic syndrome characterized by skeletal anomalies, including short stature, ridging of the metopic suture, a fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia, short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402969016	A rare genetic syndrome characterised by skeletal anomalies, including short stature, ridging of the metopic suture, a fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia, short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core