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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3305155014 Spondylocamptodactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3305156010 Spondylocamptodactyly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3305155014	Spondylocamptodactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3305156010	Spondylocamptodactyly syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module