720754008: Craniofacial conodysplasia 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\Craniofacial conodysplasia syndrome

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

\Finding of head region\Finding of face\...

\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Craniofacial conodysplasia syndrome

\Disorder of face\Lesion of face\Craniofacial conodysplasia syndrome
\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\Craniofacial conodysplasia syndrome
\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Craniofacial conodysplasia syndrome
\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Craniofacial conodysplasia syndrome

\Skull finding\Disorder of skull\Congenital anomaly of skull\Craniofacial conodysplasia syndrome

\Disorder of head\Disorder of skull\Congenital anomaly of skull\Craniofacial conodysplasia syndrome
\Disorder of head\Disorder of face\Lesion of face\Craniofacial conodysplasia 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\Craniofacial conodysplasia syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Craniofacial conodysplasia syndrome
\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Craniofacial conodysplasia 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\Craniofacial conodysplasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Craniofacial conodysplasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Craniofacial conodysplasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial conodysplasia syndrome

\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Craniofacial conodysplasia syndrome
\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Craniofacial conodysplasia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Craniofacial conodysplasia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial conodysplasia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Craniofacial conodysplasia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Craniofacial conodysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Craniofacial conodysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Craniofacial conodysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Craniofacial conodysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial conodysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Craniofacial conodysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Craniofacial conodysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Craniofacial conodysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Craniofacial conodysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial conodysplasia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniofacial conodysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Craniofacial conodysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Craniofacial conodysplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniofacial conodysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Craniofacial conodysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Craniofacial conodysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Craniofacial conodysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial conodysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Craniofacial conodysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Craniofacial conodysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Craniofacial conodysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Craniofacial conodysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial conodysplasia syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial conodysplasia syndrome
\Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Craniofacial conodysplasia syndrome
\Disease\Disorder of head\Disorder of face\Lesion of face\Craniofacial conodysplasia 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\Craniofacial conodysplasia syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Craniofacial conodysplasia syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Craniofacial conodysplasia 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\Craniofacial conodysplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Craniofacial conodysplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Craniofacial conodysplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial conodysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\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\Craniofacial conodysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\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\Craniofacial conodysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\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\Craniofacial conodysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Craniofacial conodysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Craniofacial conodysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial conodysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Craniofacial conodysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Craniofacial conodysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial conodysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial conodysplasia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Craniofacial conodysplasia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial conodysplasia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Craniofacial conodysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\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\Craniofacial conodysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\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\Craniofacial conodysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\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\Craniofacial conodysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Craniofacial conodysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Craniofacial conodysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial conodysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Craniofacial conodysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Craniofacial conodysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial conodysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial conodysplasia syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3322011015 Craniofacial conodysplasia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3322012010 Craniofacial conodysplasia syndrome en Synonym Active Case insensitive SNOMED CT core

3322013017 This syndrome has characteristics of craniofacial dysplasia, cone-shaped physes of the hands and feet and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Craniofacial conodysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Craniofacial conodysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Craniofacial conodysplasia syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Craniofacial conodysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Craniofacial conodysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Craniofacial conodysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Craniofacial conodysplasia syndrome	Finding site	Bone structure of face	true	Inferred relationship	Some	2
Craniofacial conodysplasia syndrome	Finding site	Limb structure	true	Inferred relationship	Some	1
Craniofacial conodysplasia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Craniofacial conodysplasia syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Craniofacial conodysplasia syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Craniofacial conodysplasia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Craniofacial conodysplasia syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Craniofacial conodysplasia syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Craniofacial conodysplasia syndrome	Is a	Congenital anomaly of face bones	true	Inferred relationship	Some
Craniofacial conodysplasia syndrome	Is a	Congenital anomaly of skull	true	Inferred relationship	Some
Craniofacial conodysplasia syndrome	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Some
Craniofacial conodysplasia syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Craniofacial conodysplasia syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Craniofacial conodysplasia syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Craniofacial conodysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Craniofacial conodysplasia syndrome	Finding site	Bone structure of face	false	Inferred relationship	Some	3
Craniofacial conodysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Craniofacial conodysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Craniofacial conodysplasia syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Craniofacial conodysplasia syndrome	Finding site	Limb structure	false	Inferred relationship	Some	4
Craniofacial conodysplasia syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	5
Craniofacial conodysplasia syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Some	5
Craniofacial conodysplasia syndrome	Finding site	Bone structure of cranium	true	Inferred relationship	Some	3
Craniofacial conodysplasia syndrome	Is a	Lesion of face	true	Inferred relationship	Some

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3322011015	Craniofacial conodysplasia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3322012010	Craniofacial conodysplasia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3322013017	This syndrome has characteristics of craniofacial dysplasia, cone-shaped physes of the hands and feet and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.	en	Definition	Active	Case sensitive	SNOMED CT core