62964007: Antley-Bixler syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Deformity (finding)\Deformity of limb (finding)\Deformity of lower limb (finding)\Congenital deformity of lower limb (disorder)\Congenital leg bone bowing (disorder)\Congenital bowing of femur\Antley-Bixler syndrome
\Deformity (finding)\Deformity of limb (finding)\Deformity of lower limb (finding)\Bowing deformity of lower limb (finding)\Congenital leg bone bowing (disorder)\Congenital bowing of femur\Antley-Bixler syndrome
\Deformity (finding)\Deformity of limb (finding)\Deformity of lower limb (finding)\Deformity of femur (disorder)\Congenital bowing of femur\Antley-Bixler syndrome
\Deformity (finding)\Deformation of bone\Bowing deformity of bone\Congenital bowing of long bone (disorder)\Congenital bowing of femur\Antley-Bixler syndrome
\Deformity (finding)\Deformation of bone\Bowing deformity of bone\Bowing deformity of lower limb (finding)\Congenital leg bone bowing (disorder)\Congenital bowing of femur\Antley-Bixler syndrome
\Deformity (finding)\Deformation of bone\Deformity of femur (disorder)\Congenital bowing of femur\Antley-Bixler syndrome
\Deformity (finding)\Congenital deformity (disorder)\Congenital deformity of musculoskeletal system (disorder)\Congenital bowing of long bone (disorder)\Congenital bowing of femur\Antley-Bixler syndrome
\Deformity (finding)\Congenital deformity (disorder)\Congenital deformity of musculoskeletal system (disorder)\Congenital leg bone bowing (disorder)\Congenital bowing of femur\Antley-Bixler syndrome
\Deformity (finding)\Congenital deformity (disorder)\Congenital deformity of lower limb (disorder)\Congenital leg bone bowing (disorder)\Congenital bowing of femur\Antley-Bixler syndrome

\Head finding (finding)\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Antley-Bixler syndrome
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Antley-Bixler syndrome
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Antley-Bixler syndrome
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Antley-Bixler syndrome
\Head finding (finding)\Cranial suture finding (finding)\Imperfect fusion of skull\Craniosynostosis syndrome\Antley-Bixler syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Antley-Bixler syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Antley-Bixler syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Antley-Bixler syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Antley-Bixler syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Antley-Bixler syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Craniofacial microsomia (disorder)\Antley-Bixler syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of face bones\Antley-Bixler syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Antley-Bixler syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Antley-Bixler syndrome	Is a	Craniosynostosis syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Antley-Bixler syndrome	Is a	Skeletal dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Antley-Bixler syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Antley-Bixler syndrome	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Antley-Bixler syndrome	Finding site	Synostosis	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Antley-Bixler syndrome	Finding site	Joint structure of suture of skull	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Antley-Bixler syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Antley-Bixler syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Antley-Bixler syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Antley-Bixler syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Antley-Bixler syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Antley-Bixler syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Antley-Bixler syndrome	Finding site	Joint structure of suture of skull	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Antley-Bixler syndrome	Associated morphology	Congenital premature fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Antley-Bixler syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Antley-Bixler syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Antley-Bixler syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Antley-Bixler syndrome	Is a	Congenital anomaly of bone and joint	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Antley-Bixler syndrome	Associated morphology	Congenital premature fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Antley-Bixler syndrome	Finding site	Joint structure of suture of skull	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Antley-Bixler syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Antley-Bixler syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Antley-Bixler syndrome	Associated morphology	Congenital abnormal curvature	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Antley-Bixler syndrome	Finding site	Bone structure of ulna	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Antley-Bixler syndrome	Finding site	Structure of lambdoid suture of skull (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Antley-Bixler syndrome	Finding site	Bone structure of face	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Antley-Bixler syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Antley-Bixler syndrome	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Antley-Bixler syndrome	Is a	Congenital anomaly of face bones	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Antley-Bixler syndrome	Is a	Congenital anomaly of skull	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Antley-Bixler syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Antley-Bixler syndrome	Is a	Congenital bent ulna (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Antley-Bixler syndrome	Is a	Humeroradial synostosis (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Antley-Bixler syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Antley-Bixler syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Antley-Bixler syndrome	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Antley-Bixler syndrome	Finding site	Structure of lambdoid suture of skull (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Antley-Bixler syndrome	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Antley-Bixler syndrome	Finding site	Bone structure of humerus	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Antley-Bixler syndrome	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Antley-Bixler syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Antley-Bixler syndrome	Finding site	Bone structure of face	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Antley-Bixler syndrome	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Antley-Bixler syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Antley-Bixler syndrome	Finding site	Structure of coronal suture of skull	false	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Antley-Bixler syndrome	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Antley-Bixler syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Antley-Bixler syndrome	Finding site	Bone structure of radius	false	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Antley-Bixler syndrome	Associated morphology	Congenital abnormal curvature	false	Inferred relationship	Existential restriction modifier (core metadata concept)	9
Antley-Bixler syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	9
Antley-Bixler syndrome	Finding site	Bone structure of ulna	false	Inferred relationship	Existential restriction modifier (core metadata concept)	9
Antley-Bixler syndrome	Is a	Craniofacial microsomia (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Antley-Bixler syndrome	Associated morphology	Congenital premature fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Antley-Bixler syndrome	Finding site	Joint structure of suture of skull	false	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Antley-Bixler syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Antley-Bixler syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Antley-Bixler syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Antley-Bixler syndrome	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Antley-Bixler syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Antley-Bixler syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Antley-Bixler syndrome	Finding site	Structure of coronal suture of skull	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Antley-Bixler syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Antley-Bixler syndrome	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Antley-Bixler syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Antley-Bixler syndrome	Finding site	Bone structure of radius	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Antley-Bixler syndrome	Finding site	Bone structure of humerus	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Antley-Bixler syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Antley-Bixler syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Antley-Bixler syndrome	Is a	Congenital bowing of long bone (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Antley-Bixler syndrome	Is a	Deformity of femur (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Antley-Bixler syndrome	Is a	Congenital bowing of femur	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Antley-Bixler syndrome	Finding site	Bone structure of femur	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Antley-Bixler syndrome	Associated morphology	Bowing deformity (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Antley-Bixler syndrome	Associated morphology	Congenital premature fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Antley-Bixler syndrome	Finding site	Structure of lambdoid suture of skull (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Antley-Bixler syndrome	Associated morphology	Congenital premature fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Antley-Bixler syndrome	Finding site	Structure of coronal suture of skull	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Antley-Bixler syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Antley-Bixler syndrome	Associated morphology	Premature fusion (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Antley-Bixler syndrome	Associated morphology	Premature fusion (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Antley-Bixler syndrome	Finding site	Bone structure of radius	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Antley-Bixler syndrome	Associated morphology	Abnormally fused structure (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Antley-Bixler syndrome	Finding site	Bone structure of humerus	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Antley-Bixler syndrome	Associated morphology	Abnormally fused structure (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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
104657018	Antley-Bixler syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
104658011	Multisynostotic osteodysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
104659015	Trapezoidcephaly-multiple synostosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
802194017	Antley-Bixler syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
104657018	Antley-Bixler syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
104658011	Multisynostotic osteodysgenesis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
104658011	Multisynostotic osteodysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
104659015	Trapezoidcephaly-multiple synostosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
104659015	Trapezoidcephaly-multiple synostosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
802194017	Antley-Bixler syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
802194017	Antley-Bixler syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3444001001000111	Antley-Bixler-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
914521000172112	syndrome d'Antley-Bixler	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
914521000172112	syndrome d'Antley-Bixler	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3444001001000111	Antley-Bixler-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module