1172632008: SIX homeobox 2-related frontonasal dysplasia (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\SIX homeobox 2-related frontonasal dysplasia

\Skull finding\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\SIX homeobox 2-related frontonasal dysplasia

\Disorder of head\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\SIX homeobox 2-related frontonasal dysplasia
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence\SIX homeobox 2-related frontonasal dysplasia
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence\SIX homeobox 2-related frontonasal dysplasia
\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\SIX homeobox 2-related frontonasal dysplasia

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\SIX homeobox 2-related frontonasal dysplasia
\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\SIX homeobox 2-related frontonasal dysplasia
\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\SIX homeobox 2-related frontonasal dysplasia
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\SIX homeobox 2-related frontonasal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\SIX homeobox 2-related frontonasal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\SIX homeobox 2-related frontonasal dysplasia
\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\SIX homeobox 2-related frontonasal dysplasia
\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\SIX homeobox 2-related frontonasal dysplasia
\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\SIX homeobox 2-related frontonasal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\SIX homeobox 2-related frontonasal dysplasia
\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\SIX homeobox 2-related frontonasal dysplasia
\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\SIX homeobox 2-related frontonasal dysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\SIX homeobox 2-related frontonasal dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\SIX homeobox 2-related frontonasal dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\SIX homeobox 2-related frontonasal dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\SIX homeobox 2-related frontonasal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\SIX homeobox 2-related frontonasal dysplasia
\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\SIX homeobox 2-related frontonasal dysplasia
\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\SIX homeobox 2-related frontonasal dysplasia
\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\SIX homeobox 2-related frontonasal dysplasia
\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\SIX homeobox 2-related frontonasal dysplasia
\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\SIX homeobox 2-related frontonasal dysplasia
\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\SIX homeobox 2-related frontonasal dysplasia
\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\SIX homeobox 2-related frontonasal dysplasia
\Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\SIX homeobox 2-related frontonasal dysplasia
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence\SIX homeobox 2-related frontonasal dysplasia
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence\SIX homeobox 2-related frontonasal dysplasia
\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\SIX homeobox 2-related frontonasal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence\SIX homeobox 2-related frontonasal dysplasia
\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\SIX homeobox 2-related frontonasal dysplasia
\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\SIX homeobox 2-related frontonasal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\SIX homeobox 2-related frontonasal dysplasia
\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\SIX homeobox 2-related frontonasal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\SIX homeobox 2-related frontonasal dysplasia
\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\SIX homeobox 2-related frontonasal dysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\SIX homeobox 2-related frontonasal dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\SIX homeobox 2-related frontonasal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence\SIX homeobox 2-related frontonasal dysplasia
\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\SIX homeobox 2-related frontonasal dysplasia
\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\SIX homeobox 2-related frontonasal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\SIX homeobox 2-related frontonasal dysplasia
\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\SIX homeobox 2-related frontonasal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\SIX homeobox 2-related frontonasal dysplasia

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4634887019 SIX homeobox 2-related frontonasal dysplasia (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

4634888012 SIX2-related frontonasal dysplasia en Synonym Active Entire term case sensitive SNOMED CT core module

4634889016 SIX homeobox 2-related frontonasal dysplasia en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
SIX homeobox 2-related frontonasal dysplasia	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
SIX homeobox 2-related frontonasal dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
SIX homeobox 2-related frontonasal dysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
SIX homeobox 2-related frontonasal dysplasia	Is a	Frontonasal dysplasia sequence	true	Inferred relationship	Existential restriction modifier
SIX homeobox 2-related frontonasal dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
SIX homeobox 2-related frontonasal dysplasia	Finding site	Bone structure of cranium	true	Inferred relationship	Existential restriction modifier	1
SIX homeobox 2-related frontonasal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
SIX homeobox 2-related frontonasal dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
SIX homeobox 2-related frontonasal dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
SIX homeobox 2-related frontonasal dysplasia	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
SIX homeobox 2-related frontonasal dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
SIX homeobox 2-related frontonasal dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4634887019	SIX homeobox 2-related frontonasal dysplasia (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
4634888012	SIX2-related frontonasal dysplasia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4634889016	SIX homeobox 2-related frontonasal dysplasia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module