723827003: Grant syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range\Dysplasia with increased bone density\Grant syndrome

\General finding of observation of patient\Procedure related finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\Grant syndrome

\Musculoskeletal finding\Bone finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\Grant syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Grant syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Dysplasia with increased bone density\Grant syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Grant syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Grant syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Grant syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Grant syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Grant syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Grant syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Grant syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Grant syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Grant syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Grant syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Grant syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Grant syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Grant syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Grant syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Grant syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Grant syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Grant syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Grant syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Grant syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Grant syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Grant syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Grant syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3426288012 Grant syndrome en Synonym Active Case sensitive SNOMED CT core

3426289016 Grant syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3426287019 A rare osteogenesis imperfecta-like disorder, described in two patients to date, with clinical characteristics of persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Grant syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Grant syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Grant syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Grant syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Grant syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Grant syndrome	Interprets	Bone density scan	true	Inferred relationship	Some	2
Grant syndrome	Has interpretation	Above reference range	true	Inferred relationship	Some	2
Grant syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Grant syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Grant syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Grant syndrome	Is a	Dysplasia with increased bone density	true	Inferred relationship	Some
Grant syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Grant syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Grant syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Grant syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Grant syndrome	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
3426288012	Grant syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3426289016	Grant syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3426287019	A rare osteogenesis imperfecta-like disorder, described in two patients to date, with clinical characteristics of persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.	en	Definition	Active	Case sensitive	SNOMED CT core