FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.8.2 | FHIR Version n/a User: [n/a]

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\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
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones

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

Status: current, Defined. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

400879019 Congenital abnormality of skull and face bones en Synonym Active Case insensitive SNOMED CT core

400880016 Skull and face bone anomalies en Synonym Active Case insensitive SNOMED CT core

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital abnormality of skull and face bones	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital abnormality of skull and face bones	Pathological process	Pathological developmental process	true	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	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 abnormality	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	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	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	Is a	Congenital anomaly of skull	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Fronto-naso-ethmoidal dysostosis	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
Haspeslagh Fryns Muelenaere syndrome	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	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 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

Start Page 2 of 2

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
400879019	Congenital abnormality of skull and face bones	en	Synonym	Active	Case insensitive	SNOMED CT core
400880016	Skull and face bone anomalies	en	Synonym	Active	Case insensitive	SNOMED CT core
660955018	Congenital abnormality of skull and face bones (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core