763353000: Cerebrofacioarticular syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Cerebrofacioarticular 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\Cerebrofacioarticular syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cerebrofacioarticular syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cerebrofacioarticular syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Cerebrofacioarticular syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Cerebrofacioarticular syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Cerebrofacioarticular syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Cerebrofacioarticular syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Cerebrofacioarticular syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Cerebrofacioarticular syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Cerebrofacioarticular syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cerebrofacioarticular syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cerebrofacioarticular syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cerebrofacioarticular syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cerebrofacioarticular syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Cerebrofacioarticular 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\Cerebrofacioarticular syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Cerebrofacioarticular syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cerebrofacioarticular syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cerebrofacioarticular syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Cerebrofacioarticular syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cerebrofacioarticular syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Cerebrofacioarticular syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Cerebrofacioarticular syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Cerebrofacioarticular syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Cerebrofacioarticular syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Cerebrofacioarticular syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cerebrofacioarticular syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Cerebrofacioarticular syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3638665010 Cerebrofacioarticular syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3638666011 Cerebrofacioarticular syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3638667019 Van Maldergem syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cerebrofacioarticular syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Cerebrofacioarticular syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Cerebrofacioarticular syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Cerebrofacioarticular syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Cerebrofacioarticular syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Cerebrofacioarticular syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Cerebrofacioarticular syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Cerebrofacioarticular syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Cerebrofacioarticular syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Cerebrofacioarticular syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Cerebrofacioarticular syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Cerebrofacioarticular syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Cerebrofacioarticular syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Cerebrofacioarticular syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Cerebrofacioarticular syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Cerebrofacioarticular syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Cerebrofacioarticular syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Cerebrofacioarticular syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	3
Cerebrofacioarticular syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3
Cerebrofacioarticular syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	4
Cerebrofacioarticular syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4

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
3638665010	Cerebrofacioarticular syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3638666011	Cerebrofacioarticular syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3638667019	Van Maldergem syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module