86610004: Frontonasal dysplasia sequence (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence

\Skull finding\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence

\Disorder of head\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\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\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence

\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\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\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

143622013 Frontonasal dysplasia sequence en Synonym Active Case insensitive SNOMED CT core

143623015 Median cleft face syndrome en Synonym Active Case insensitive SNOMED CT core

828910010 Frontonasal dysplasia sequence (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Frontonasal dysplasia sequence	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Frontonasal dysplasia sequence	Occurrence	Congenital	true	Inferred relationship	Some	1
Frontonasal dysplasia sequence	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Frontonasal dysplasia sequence	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Frontonasal dysplasia sequence	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Frontonasal dysplasia sequence	Finding site	Bone structure of cranium	true	Inferred relationship	Some	1
Frontonasal dysplasia sequence	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Frontonasal dysplasia sequence	Is a	Disorder of face	false	Inferred relationship	Some
Frontonasal dysplasia sequence	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Frontonasal dysplasia sequence	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Frontonasal dysplasia sequence	Is a	Congenital anomaly of face	false	Inferred relationship	Some
Frontonasal dysplasia sequence	Finding site	Structure of centre of face	false	Inferred relationship	Some	1
Frontonasal dysplasia sequence	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Frontonasal dysplasia sequence	Occurrence	Congenital	true	Inferred relationship	Some	2
Frontonasal dysplasia sequence	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Frontonasal dysplasia sequence	Finding site	Face structure	true	Inferred relationship	Some	2
Frontonasal dysplasia sequence	Occurrence	Congenital	false	Inferred relationship	Some	3
Frontonasal dysplasia sequence	Is a	Dysostosis of bone of skull	true	Inferred relationship	Some
Frontonasal dysplasia sequence	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Frontonasal dysplasia sequence	Finding site	Bone structure of cranium	false	Inferred relationship	Some	3
Frontonasal dysplasia sequence	Finding site	Structure of centre of face	false	Inferred relationship	Some	1
Frontonasal dysplasia sequence	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Frontonasal dysplasia sequence	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Some
Oculoauriculofrontonasal syndrome	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Some
Craniorhiny	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Some
Craniofrontonasal dysplasia with Poland anomaly syndrome	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Some
SIX2-related frontonasal dysplasia	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Some
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Some
Frontorhiny	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Some
Pai syndrome	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Some
Hypertelorism Teebi type	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Some

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
143622013	Frontonasal dysplasia sequence	en	Synonym	Active	Case insensitive	SNOMED CT core
143623015	Median cleft face syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
828910010	Frontonasal dysplasia sequence (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core