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\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\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\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence

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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

143622013 Frontonasal dysplasia sequence en Synonym Active Entire term case insensitive SNOMED CT core module

143623015 Median cleft face syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

828910010 Frontonasal dysplasia sequence (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
Frontonasal dysplasia sequence	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Frontonasal dysplasia sequence	Is a	Congenital anomaly of face	false	Inferred relationship	Existential restriction modifier
Frontonasal dysplasia sequence	Finding site	Structure of center of face	false	Inferred relationship	Existential restriction modifier	1
Frontonasal dysplasia sequence	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier	1
Frontonasal dysplasia sequence	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Frontonasal dysplasia sequence	Is a	Congenital anomaly of head	false	Inferred relationship	Existential restriction modifier
Frontonasal dysplasia sequence	Is a	Disorder of face	false	Inferred relationship	Existential restriction modifier
Frontonasal dysplasia sequence	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Frontonasal dysplasia sequence	Finding site	Structure of center of face	false	Inferred relationship	Existential restriction modifier	1
Frontonasal dysplasia sequence	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Frontonasal dysplasia sequence	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Frontonasal dysplasia sequence	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Frontonasal dysplasia sequence	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Frontonasal dysplasia sequence	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Frontonasal dysplasia sequence	Is a	Dysostosis of bone of skull	true	Inferred relationship	Existential restriction modifier
Frontonasal dysplasia sequence	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Frontonasal dysplasia sequence	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier	3
Frontonasal dysplasia sequence	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Frontonasal dysplasia sequence	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Frontonasal dysplasia sequence	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Frontonasal dysplasia sequence	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Frontonasal dysplasia sequence	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Frontonasal dysplasia sequence	Finding site	Bone structure of cranium	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Existential restriction modifier
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Existential restriction modifier
Hypertelorism Teebi type	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Existential restriction modifier
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Existential restriction modifier
Oculoauriculofrontonasal syndrome	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Existential restriction modifier
Craniorhiny	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Existential restriction modifier
Craniofrontonasal dysplasia with Poland anomaly syndrome	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Existential restriction modifier
SIX homeobox 2-related frontonasal dysplasia	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Existential restriction modifier
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Existential restriction modifier
Frontorhiny	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
143622013	Frontonasal dysplasia sequence	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
143623015	Median cleft face syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
828910010	Frontonasal dysplasia sequence (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module