716231009: Spondylocamptodactyly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group\Spondylocamptodactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondylocamptodactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Spondylocamptodactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group\Spondylocamptodactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Spondylocamptodactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Spondylocamptodactyly syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylocamptodactyly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondylocamptodactyly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylocamptodactyly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondylocamptodactyly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Spondylocamptodactyly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group\Spondylocamptodactyly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Spondylocamptodactyly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Spondylocamptodactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Spondylocamptodactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Spondylocamptodactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Spondylocamptodactyly syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group\Spondylocamptodactyly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Spondylocamptodactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Spondylocamptodactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Spondylocamptodactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Spondylocamptodactyly syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3305155014 Spondylocamptodactyly syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3305156010 Spondylocamptodactyly syndrome en Synonym Active Case insensitive SNOMED CT core

3305157018 Rare syndrome with characteristics of camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis. This syndrome has been described in five members from three generations of one family. Inheritance is thought to be autosomal dominant or autosomal recessive with pseudodominance. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondylocamptodactyly syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Spondylocamptodactyly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Spondylocamptodactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Spondylocamptodactyly syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Spondylocamptodactyly syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Spondylocamptodactyly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Spondylocamptodactyly syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Spondylocamptodactyly syndrome	Is a	Spondylodysplastic group	true	Inferred relationship	Some
Spondylocamptodactyly syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Spondylocamptodactyly syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Spondylocamptodactyly syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Spondylocamptodactyly syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Spondylocamptodactyly 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

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3305155014	Spondylocamptodactyly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3305156010	Spondylocamptodactyly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3305157018	Rare syndrome with characteristics of camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis. This syndrome has been described in five members from three generations of one family. Inheritance is thought to be autosomal dominant or autosomal recessive with pseudodominance.	en	Definition	Active	Case sensitive	SNOMED CT core