763353000: Cerebrofacioarticular syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour 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\Intellectual ability - finding\Intellectual disability\Cerebrofacioarticular syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Cerebrofacioarticular syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Cerebrofacioarticular syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Cerebrofacioarticular syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Cerebrofacioarticular syndrome
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Cerebrofacioarticular syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Cerebrofacioarticular syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Cerebrofacioarticular syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cerebrofacioarticular syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Cerebrofacioarticular syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cerebrofacioarticular syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Cerebrofacioarticular syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3638665010 Cerebrofacioarticular syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3638666011 Cerebrofacioarticular syndrome en Synonym Active Case insensitive SNOMED CT core

3638667019 Van Maldergem syndrome en Synonym Active Case sensitive SNOMED CT core

3657267017 A rare multiple congenital anomalies syndrome with mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). May also present with neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia. en Definition Active Case sensitive SNOMED CT core

3777373017 A rare multiple congenital anomalies syndrome with mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). May also present with neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and grey matter heterotopia. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3638665010	Cerebrofacioarticular syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3638666011	Cerebrofacioarticular syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3638667019	Van Maldergem syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3657267017	A rare multiple congenital anomalies syndrome with mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). May also present with neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.	en	Definition	Active	Case sensitive	SNOMED CT core
3777373017	A rare multiple congenital anomalies syndrome with mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). May also present with neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and grey matter heterotopia.	en	Definition	Active	Case sensitive	SNOMED CT core