268239009: Congenital abnormality of skull and face bones (disorder)

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

\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones

\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones
\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
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital abnormality of skull and face bones	Is a	Congenital anomaly of skull	false	Inferred relationship	Some
Congenital abnormality of skull and face bones	Finding site	Bone structure of cranium	false	Inferred relationship	Some	1
Congenital abnormality of skull and face bones	Occurrence	Congenital	false	Inferred relationship	Some
Congenital abnormality of skull and face bones	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Congenital abnormality of skull and face bones	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Congenital abnormality of skull and face bones	Finding site	Bone structure of cranium	false	Inferred relationship	Some	1
Congenital abnormality of skull and face bones	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital abnormality of skull and face bones	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Congenital abnormality of skull and face bones	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Congenital abnormality of skull and face bones	Is a	Congenital anomaly of head	true	Inferred relationship	Some
Congenital abnormality of skull and face bones	Finding site	Bone structure of head	false	Inferred relationship	Some	2
Congenital abnormality of skull and face bones	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital abnormality of skull and face bones	Finding site	Bone structure of head	true	Inferred relationship	Some	1
Congenital abnormality of skull and face bones	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital abnormality of skull and face bones	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital abnormality of skull shape	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Localised congenital skull defect	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Dysostosis of bone of skull	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Facial asymmetry	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital anomaly of face bones	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital hypertrophy of sphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Encephalocele	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Craniosynostosis syndrome	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital absence of skull bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Exencephaly	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital cranial osteoporosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Cleft face	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital abnormal fusion of supraoccipital bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital abnormal shape of basisphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital abnormal shape of presphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital abnormal shape of supraoccipital bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital anomaly of alisphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital anomaly of basioccipital bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital anomaly of exoccipital bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital anomaly of fetal head bones	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital anomaly of frontal bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital anomaly of interparietal bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital anomaly of parietal bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital anomaly of squamosal bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital fenestration of basisphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital hypoplasia of presphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital hypoplasia of supraoccipital bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
congenitaal malformatiesyndroom met invloed op aangezichtskenmerken	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Cyclops	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Some
Jaw congenital deformities	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Skull, face or jaw congenital deformities NOS	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
[X]Other congenital deformities of skull, face and jaw	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
[X]Other specified congenital malformations of skull and face bones	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital abnormal fusion of supraoccipital bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital abnormal shape of basisphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital abnormal shape of presphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital abnormal shape of supraoccipital bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital anomaly of basisphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital anomaly of presphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital anomaly of supraoccipital bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital fenestration of basisphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital hypoplasia of presphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital hypoplasia of supraoccipital bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Cleft face	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital abnormal fusion of alisphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital abnormal shape of alisphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital fenestration of alisphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital anomaly of basisphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital anomaly of hyoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital anomaly of lacrimal bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital anomaly of nasal bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital anomaly of palatine bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital anomaly of premaxilla	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital anomaly of presphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital anomaly of supraoccipital bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital anomaly of vomer	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital anomaly of zygomatic bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital enlargement of fontanel	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital hypoplasia of alisphenoid bone (disorder)	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Anterior perimaxillary faciosynostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Complete perimaxillary faciosynostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Posterior perimaxillary faciosynostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Orbital deformity associated with craniofacial deformity	Associated with	True	Congenital abnormality of skull and face bones	Inferred relationship	Some	2
Intermandibular dysostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Maxillary dysostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Maxillo-zygomatic dysostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Naso-maxillary dysostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Internasal dysostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Sphenoidal dysostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Vomero-premaxillary faciosynostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Premaxillo-maxillary dysostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital abnormal shape of vomer	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital abnormal fusion of vomer	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital malformation of sphenoid wing (disorder)	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Branchiooculofacial syndrome	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital anomaly of skull	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Some
Spheno-frontal dysostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital anomaly of face bones	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Some
Fronto-naso-ethmoidal dysostosis (disorder)	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Fronto-frontal dysostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder)	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Some
Harrod syndrome	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Some
Lissencephaly syndrome Norman Roberts type (disorder)	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Some
3C syndrome	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital absence of supraoccipital bone	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital absence of premaxilla	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital absence of presphenoid bone	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Some
Lack of ossification of auditory ossicles	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital absence of basisphenoid bone	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital absence of tympanic anulus	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Some
Fibrous dysplasia of jaw	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Papillon-Lefèvre syndrome	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital anomaly of mandible	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder)	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital asymmetry of jaw	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Cleft of alveolar ridge (disorder)	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Dobrow syndrome (disorder)	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Lingual ectopic tooth	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital prognathism	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Congenital retrognathism	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Cleft lip and cleft of alveolar process of maxilla (disorder)	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
400879019	Congenital abnormality of skull and face bones	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
400880016	Skull and face bone anomalies	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
660955018	Congenital abnormality of skull and face bones (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5764531000172119	anomalie congénitale du crâne et les os du visage	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4952111000172117	gebrekkige ontwikkeling bot van hoofd en gelaat	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4952121000172110	congenitale afwijking van bot van hoofd en aangezicht	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4952131000172113	abnormale ontwikkeling bot van caput en facies	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)