86610004: Frontonasal dysplasia sequence (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos d'une région de la tête et du cou\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

\Skull finding\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Frontonasal dysplasia sequence

\affection de la tête\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence
\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence
\affection de la tête\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Frontonasal dysplasia sequence

\Musculoskeletal finding\constatation à propos de l'os\Skull finding\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence

\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\affection de la tête\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence
\Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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 (disorder)\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\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\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\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\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Frontonasal dysplasia sequence
\Disease\trouble du développement\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:

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Frontonasal dysplasia sequence	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Frontonasal dysplasia sequence	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Frontonasal dysplasia sequence	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Frontonasal dysplasia sequence	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Frontonasal dysplasia sequence	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	2
Frontonasal dysplasia sequence	localisation d'une constatation (attribut)	crâne (structure corporelle)	true	Inferred relationship	Some	1
Frontonasal dysplasia sequence	est un(e) (attribut)	Congenital anomaly of head	false	Inferred relationship	Some
Frontonasal dysplasia sequence	est un(e) (attribut)	Disorder of face (disorder)	false	Inferred relationship	Some
Frontonasal dysplasia sequence	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
Frontonasal dysplasia sequence	est un(e) (attribut)	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Frontonasal dysplasia sequence	est un(e) (attribut)	Congenital anomaly of face	false	Inferred relationship	Some
Frontonasal dysplasia sequence	localisation d'une constatation (attribut)	Structure of center of face	false	Inferred relationship	Some	1
Frontonasal dysplasia sequence	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Frontonasal dysplasia sequence	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Frontonasal dysplasia sequence	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
Frontonasal dysplasia sequence	localisation d'une constatation (attribut)	face	true	Inferred relationship	Some	2
Frontonasal dysplasia sequence	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Frontonasal dysplasia sequence	est un(e) (attribut)	Dysostosis of bone of skull	true	Inferred relationship	Some
Frontonasal dysplasia sequence	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	3
Frontonasal dysplasia sequence	localisation d'une constatation (attribut)	crâne (structure corporelle)	false	Inferred relationship	Some	3
Frontonasal dysplasia sequence	localisation d'une constatation (attribut)	Structure of center of face	false	Inferred relationship	Some	1
Frontonasal dysplasia sequence	morphologie associée (attribut)	dysplasie	false	Inferred relationship	Some	1
Frontonasal dysplasia sequence	survenue (attribut)	congénital	false	Inferred relationship	Some

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

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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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