718765003: Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder 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\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3313781011 Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3313782016 Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3313783014 Spondyloepiphyseal dysplasia Cantu type en Synonym Active Only initial character case insensitive SNOMED CT core module

3313784015 Tattoo dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Is a	Short stature disorder	true	Inferred relationship	Existential restriction modifier
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Is a	Spondyloepiphyseal dysplasia congenita group	true	Inferred relationship	Existential restriction modifier
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	5
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Finding site	Limb structure	true	Inferred relationship	Existential restriction modifier	3
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	4
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	4
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	4

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
3313781011	Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3313782016	Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3313783014	Spondyloepiphyseal dysplasia Cantu type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3313784015	Tattoo dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module