718556007: Cranio-cerebello-cardiac dysplasia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome

\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Cranio-cerebello-cardiac dysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Cranio-cerebello-cardiac dysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Cranio-cerebello-cardiac dysplasia syndrome

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

\Finding of brain\Disorder of brain\Congenital anomaly of brain\Cranio-cerebello-cardiac dysplasia syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cranio-cerebello-cardiac dysplasia syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cranio-cerebello-cardiac dysplasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cranio-cerebello-cardiac dysplasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Cranio-cerebello-cardiac dysplasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Cranio-cerebello-cardiac dysplasia syndrome
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Cranio-cerebello-cardiac dysplasia syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Cranio-cerebello-cardiac dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Cranio-cerebello-cardiac dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Cranio-cerebello-cardiac dysplasia syndrome

\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Cranio-cerebello-cardiac dysplasia 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\Congenital abnormality of skull and face bones\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Cranio-cerebello-cardiac dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cranio-cerebello-cardiac dysplasia 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

3312750013 Craniocerebellocardiac dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

3312751012 Ritscher Schinzel syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3312752017 3C syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

3312754016 Cranio-cerebello-cardiac dysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3312755015 Cranio-cerebello-cardiac dysplasia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cranio-cerebello-cardiac dysplasia syndrome	Is a	Congenital heart disease	true	Inferred relationship	Existential restriction modifier
Cranio-cerebello-cardiac dysplasia syndrome	Is a	Congenital anomaly of brain	true	Inferred relationship	Existential restriction modifier
Cranio-cerebello-cardiac dysplasia syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Cranio-cerebello-cardiac dysplasia syndrome	Is a	Congenital abnormality of skull and face bones	true	Inferred relationship	Existential restriction modifier
Cranio-cerebello-cardiac dysplasia syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Cranio-cerebello-cardiac dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Cranio-cerebello-cardiac dysplasia syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
Cranio-cerebello-cardiac dysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Cranio-cerebello-cardiac dysplasia syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	6
Cranio-cerebello-cardiac dysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	6
Cranio-cerebello-cardiac dysplasia syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	7
Cranio-cerebello-cardiac dysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	7
Cranio-cerebello-cardiac dysplasia syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	4
Cranio-cerebello-cardiac dysplasia syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	4
Cranio-cerebello-cardiac dysplasia syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	5
Cranio-cerebello-cardiac dysplasia syndrome	Finding site	Bone structure of head	false	Inferred relationship	Existential restriction modifier	7
Cranio-cerebello-cardiac dysplasia syndrome	Finding site	Heart structure	false	Inferred relationship	Existential restriction modifier	6
Cranio-cerebello-cardiac dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Cranio-cerebello-cardiac dysplasia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Cranio-cerebello-cardiac dysplasia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Cranio-cerebello-cardiac dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Cranio-cerebello-cardiac dysplasia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	4
Cranio-cerebello-cardiac dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Cranio-cerebello-cardiac dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Cranio-cerebello-cardiac dysplasia syndrome	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier	1
Cranio-cerebello-cardiac dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Cranio-cerebello-cardiac dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Cranio-cerebello-cardiac dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Cranio-cerebello-cardiac dysplasia syndrome	Finding site	Heart structure	true	Inferred relationship	Existential restriction modifier	2
Cranio-cerebello-cardiac dysplasia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Cranio-cerebello-cardiac dysplasia syndrome	Finding site	Bone structure of head	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3312750013	Craniocerebellocardiac dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3312751012	Ritscher Schinzel syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3312752017	3C syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3312754016	Cranio-cerebello-cardiac dysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3312755015	Cranio-cerebello-cardiac dysplasia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module