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

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

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

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

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

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 (disorder)	Is a	Congenital anomaly of skull	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormality of skull and face bones (disorder)	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital abnormality of skull and face bones (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormality of skull and face bones (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital abnormality of skull and face bones (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital abnormality of skull and face bones (disorder)	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital abnormality of skull and face bones (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital abnormality of skull and face bones (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital abnormality of skull and face bones (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormality of skull and face bones (disorder)	Is a	Congenital anomaly of head	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormality of skull and face bones (disorder)	Finding site	Bone structure of head	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital abnormality of skull and face bones (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital abnormality of skull and face bones (disorder)	Finding site	Bone structure of head	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital abnormality of skull and face bones (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital abnormality of skull and face bones (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cleft lip and cleft of alveolar process of maxilla (disorder)	Is a	False	Congenital abnormality of skull and face bones (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder)	Is a	False	Congenital abnormality of skull and face bones (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniofacial cleft (disorder)	Is a	False	Congenital abnormality of skull and face bones (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniofacial microsomia (disorder)	Is a	True	Congenital abnormality of skull and face bones (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Agenesis of premaxilla	Is a	True	Congenital abnormality of skull and face bones (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.	Is a	True	Congenital abnormality of skull and face bones (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Ankyloblepharon filiforme adnatum with cleft palate syndrome	Is a	True	Congenital abnormality of skull and face bones (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Contracture with ectodermal dysplasia and orofacial cleft syndrome	Is a	True	Congenital abnormality of skull and face bones (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Triopia	Is a	True	Congenital abnormality of skull and face bones (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

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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
400879019	Congenital abnormality of skull and face bones	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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
3392970016	anomalie congénitale des os du crâne et du visage	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3392970016	anomalie congénitale des os du crâne et du visage	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module