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

SNOMED CT Concept\Clinical finding\...

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

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\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 of bone development\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 of bone development\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\Congenital anomaly of head\Congenital abnormality of skull and face bones
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones
\Disease\Congenital disease\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\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. Date: 31-Jul 2014. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

400879019 Congenital abnormality of skull and face bones en Synonym Active Entire term case insensitive SNOMED CT core module

400880016 Skull and face bone anomalies en Synonym Active Entire term case insensitive SNOMED CT core module

660955018 Congenital abnormality of skull and face bones (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

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	Existential restriction modifier
Congenital abnormality of skull and face bones	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier	1
Congenital abnormality of skull and face bones	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Congenital abnormality of skull and face bones	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Congenital abnormality of skull and face bones	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Congenital abnormality of skull and face bones	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier	1
Congenital abnormality of skull and face bones	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Congenital abnormality of skull and face bones	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Congenital abnormality of skull and face bones	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Congenital abnormality of skull and face bones	Is a	Congenital anomaly of head	true	Inferred relationship	Existential restriction modifier
Congenital abnormality of skull and face bones	Finding site	Bone structure of head	false	Inferred relationship	Existential restriction modifier	2
Congenital abnormality of skull and face bones	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Congenital abnormality of skull and face bones	Finding site	Bone structure of head	true	Inferred relationship	Existential restriction modifier	1
Congenital abnormality of skull and face bones	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Congenital abnormality of skull and face bones	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	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	Existential restriction modifier
Localized congenital skull defect	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Dysostosis of bone of skull	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Facial asymmetry	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital anomaly of face bones	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital hypertrophy of sphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Encephalocele	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Craniosynostosis syndrome	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital absence of skull bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Exencephaly	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital cranial osteoporosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Cleft face	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital abnormal fusion of supraoccipital bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital abnormal shape of basisphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital abnormal shape of presphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital abnormal shape of supraoccipital bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital anomaly of alisphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital anomaly of basioccipital bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital anomaly of exoccipital bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital anomaly of fetal head bones	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital anomaly of frontal bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital anomaly of interparietal bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital anomaly of parietal bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital anomaly of squamosal bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital fenestration of basisphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital hypoplasia of presphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital hypoplasia of supraoccipital bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital malformation syndromes affecting facial appearance	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Cyclopia	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Jaw congenital deformities	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Skull, face or jaw congenital deformities NOS	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
[X]Other congenital deformities of skull, face and jaw	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
[X]Other specified congenital malformations of skull and face bones	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital abnormal fusion of supraoccipital bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital abnormal shape of basisphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital abnormal shape of presphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital abnormal shape of supraoccipital bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital anomaly of basisphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital anomaly of presphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital anomaly of supraoccipital bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital fenestration of basisphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital hypoplasia of presphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital hypoplasia of supraoccipital bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Cleft face	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital abnormal fusion of alisphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital abnormal shape of alisphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital fenestration of alisphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital anomaly of basisphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital anomaly of hyoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital anomaly of lacrimal bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital anomaly of nasal bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital anomaly of palatine bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital anomaly of premaxilla	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital anomaly of presphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital anomaly of supraoccipital bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital anomaly of vomer	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital anomaly of zygomatic bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital enlargement of fontanel	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital hypoplasia of alisphenoid bone	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Anterior perimaxillary faciosynostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Complete perimaxillary faciosynostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Posterior perimaxillary faciosynostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Orbital deformity associated with craniofacial deformity	Associated with	True	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier	2
Intermandibular dysostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Maxillary dysostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Maxillo-zygomatic dysostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Naso-maxillary dysostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Internasal dysostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Sphenoidal dysostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Vomero-premaxillary faciosynostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Premaxillo-maxillary dysostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital abnormal shape of vomer	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital abnormal fusion of vomer	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital malformation of sphenoid wing	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Branchiooculofacial syndrome	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital anomaly of skull	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Spheno-frontal dysostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital anomaly of face bones	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Fronto-naso-ethmoidal dysostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Fronto-frontal dysostosis	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Craniofacial digital and genital anomalies syndrome	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Lissencephaly syndrome Norman Roberts type	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Cranio-cerebello-cardiac dysplasia syndrome	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital absence of supraoccipital bone	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital absence of premaxilla	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital absence of presphenoid bone	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital lack of ossification of auditory ossicles	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital absence of basisphenoid bone	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital absence of tympanic anulus	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Fibrous dysplasia of jaw	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Papillon-Lefèvre syndrome	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital anomaly of mandible	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital asymmetry of jaw	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Cleft of alveolar ridge	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Dobrow syndrome	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Lingual ectopic tooth	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital prognathism	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Congenital retrognathism	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier
Cleft lip and cleft of alveolar process of maxilla	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Existential restriction modifier

Page 1 of 2 End

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
400879019	Congenital abnormality of skull and face bones	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
400880016	Skull and face bone anomalies	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
660955018	Congenital abnormality of skull and face bones (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module