719466009: Cleft palate with short stature and vertebral anomaly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of back\Finding of spinal region\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome
\Finding of back\Finding of spinal region\Disorder of spinal region\Disorder of vertebral column\Cleft palate with short stature and vertebral anomaly syndrome
\Finding of back\Finding of spinal region\Vertebral column finding\Disorder of vertebral column\Cleft palate with short stature and vertebral anomaly syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Disorder of vertebral column\Cleft palate with short stature and vertebral anomaly syndrome
\Finding of back\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Cleft palate with short stature and vertebral anomaly syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Cleft palate with short stature and vertebral anomaly syndrome

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

\Finding of head region\Orofacial cleft\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cleft palate with short stature and vertebral anomaly syndrome
\Finding of head region\Palate finding\Disorder of palate\Congenital anomaly of palate\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome

\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cleft palate with short stature and vertebral anomaly syndrome
\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cleft palate with short stature and vertebral anomaly syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Cleft palate with short stature and vertebral anomaly syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Cleft palate with short stature and vertebral anomaly syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Cleft palate with short stature and vertebral anomaly syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Cleft palate with short stature and vertebral anomaly syndrome

\Musculoskeletal finding\Vertebral column finding\Disorder of vertebral column\Cleft palate with short stature and vertebral anomaly syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of vertebral column\Cleft palate with short stature and vertebral anomaly syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of vertebral column\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Disorder of back\Disorder of spinal region\Disorder of vertebral column\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Cleft palate with short stature and vertebral anomaly 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

3316450012 Cleft palate with short stature and vertebral anomaly syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3316451011 Cleft palate with short stature and vertebral anomaly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3316452016 Mathieu De Broca Bony syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cleft palate with short stature and vertebral anomaly syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Cleft palate with short stature and vertebral anomaly syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Cleft palate with short stature and vertebral anomaly syndrome	Is a	Congenital anomaly of spine	true	Inferred relationship	Existential restriction modifier
Cleft palate with short stature and vertebral anomaly syndrome	Is a	Cleft palate	true	Inferred relationship	Existential restriction modifier
Cleft palate with short stature and vertebral anomaly syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Cleft palate with short stature and vertebral anomaly syndrome	Is a	Short stature disorder	true	Inferred relationship	Existential restriction modifier
Cleft palate with short stature and vertebral anomaly syndrome	Is a	Digestive system hereditary disorder	false	Inferred relationship	Existential restriction modifier
Cleft palate with short stature and vertebral anomaly syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Cleft palate with short stature and vertebral anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Cleft palate with short stature and vertebral anomaly syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Cleft palate with short stature and vertebral anomaly syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Cleft palate with short stature and vertebral anomaly syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Cleft palate with short stature and vertebral anomaly syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	4
Cleft palate with short stature and vertebral anomaly syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Cleft palate with short stature and vertebral anomaly syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	3
Cleft palate with short stature and vertebral anomaly syndrome	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Existential restriction modifier	5
Cleft palate with short stature and vertebral anomaly syndrome	Finding site	Palatal structure	false	Inferred relationship	Existential restriction modifier	5
Cleft palate with short stature and vertebral anomaly syndrome	Finding site	Structure of vertebral column	false	Inferred relationship	Existential restriction modifier	3
Cleft palate with short stature and vertebral anomaly syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Existential restriction modifier	1
Cleft palate with short stature and vertebral anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Cleft palate with short stature and vertebral anomaly syndrome	Finding site	Palatal structure	false	Inferred relationship	Existential restriction modifier	1
Cleft palate with short stature and vertebral anomaly syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Cleft palate with short stature and vertebral anomaly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Cleft palate with short stature and vertebral anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Cleft palate with short stature and vertebral anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Cleft palate with short stature and vertebral anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Cleft palate with short stature and vertebral anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Cleft palate with short stature and vertebral anomaly syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Existential restriction modifier	2
Cleft palate with short stature and vertebral anomaly syndrome	Finding site	Palatal structure	true	Inferred relationship	Existential restriction modifier	2
Cleft palate with short stature and vertebral anomaly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Cleft palate with short stature and vertebral anomaly syndrome	Finding site	Structure of vertebral column	true	Inferred relationship	Existential restriction modifier	1
Cleft palate with short stature and vertebral anomaly syndrome	Is a	Congenital anomaly of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Cleft palate with short stature and vertebral anomaly syndrome	Is a	Disorder of vertebral column	true	Inferred relationship	Existential restriction modifier
Cleft palate with short stature and vertebral anomaly syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	4
Cleft palate with short stature and vertebral anomaly syndrome	Finding site	Bone structure of head	false	Inferred relationship	Existential restriction modifier	4
Cleft palate with short stature and vertebral anomaly syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Existential restriction modifier	4
Cleft palate with short stature and vertebral anomaly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Cleft palate with short stature and vertebral anomaly syndrome	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	5
Cleft palate with short stature and vertebral anomaly syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	4
Cleft palate with short stature and vertebral anomaly syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4
Cleft palate with short stature and vertebral anomaly syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	6
Cleft palate with short stature and vertebral anomaly syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6

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
3316450012	Cleft palate with short stature and vertebral anomaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3316451011	Cleft palate with short stature and vertebral anomaly syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3316452016	Mathieu De Broca Bony syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module