86610004: Frontonasal dysplasia sequence (disorder)

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

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence
\Head finding (finding)\Skull finding\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Head finding (finding)\Disorder of head (disorder)\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence

\Musculoskeletal finding (finding)\Bone finding\Skull finding\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\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)\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\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)\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\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\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\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)\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\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)\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\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)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\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)\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\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\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\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)\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Disorder of body system\Disorder of musculoskeletal system (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)\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Developmental disorder (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 (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Developmental disorder (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 (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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 (core metadata concept)
Frontonasal dysplasia sequence	Is a	Congenital anomaly of face	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Frontonasal dysplasia sequence	Finding site	Structure of center of face (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Frontonasal dysplasia sequence	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Frontonasal dysplasia sequence	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Frontonasal dysplasia sequence	Is a	Congenital anomaly of head	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Frontonasal dysplasia sequence	Is a	Disorder of face (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Frontonasal dysplasia sequence	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Frontonasal dysplasia sequence	Finding site	Structure of center of face (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Frontonasal dysplasia sequence	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Frontonasal dysplasia sequence	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Frontonasal dysplasia sequence	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Frontonasal dysplasia sequence	Finding site	Face structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Frontonasal dysplasia sequence	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Frontonasal dysplasia sequence	Is a	Dysostosis of bone of skull	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Frontonasal dysplasia sequence	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Frontonasal dysplasia sequence	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Frontonasal dysplasia sequence	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Frontonasal dysplasia sequence	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Frontonasal dysplasia sequence	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Frontonasal dysplasia sequence	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Frontonasal dysplasia sequence	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Frontonasal dysplasia sequence	Finding site	Bone structure of cranium	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pai syndrome	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Existential restriction modifier (core metadata concept)
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare autosomal dominant malformation syndrome characterized by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects.	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Existential restriction modifier (core metadata concept)
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare dysostosis syndrome with characteristics of vertical median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations. The syndrome manifests with highly variable craniofacial features which include hypertelorism, eyelid coloboma, orbital dystopia, epibulbar dermoid, nasal anomalies (for example wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated.	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniorhiny (disorder)	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder)	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Existential restriction modifier (core metadata concept)
SIX2-related frontonasal dysplasia	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Existential restriction modifier (core metadata concept)
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Existential restriction modifier (core metadata concept)
Frontorhiny (disorder)	Is a	True	Frontonasal dysplasia sequence	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
143622013	Frontonasal dysplasia sequence	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
143623015	Median cleft face syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
828910010	Frontonasal dysplasia sequence (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
143622013	Frontonasal dysplasia sequence	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
143622013	Frontonasal dysplasia sequence	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
143623015	Median cleft face syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
143623015	Median cleft face syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
828910010	Frontonasal dysplasia sequence (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
828910010	Frontonasal dysplasia sequence (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4673191000241113	syndrome de dysplasie fronto-nasale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4673191000241113	syndrome de dysplasie fronto-nasale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module