717913006: syndrome blépharo-naso-facial (trouble)

• 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)\Congenital anomaly of nose\Blepharonasofacial malformation syndrome (disorder)
• \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\Blepharonasofacial malformation syndrome (disorder)
• \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)\Disorder of the nose (disorder)\Congenital anomaly of nose\Blepharonasofacial malformation syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Finding of face\Nose finding\Disorder of the nose (disorder)\Congenital anomaly of nose\Blepharonasofacial malformation syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Disorder of nose AND/OR nasopharynx (disorder)\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Blepharonasofacial malformation syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Disorder of nose AND/OR nasopharynx (disorder)\Disorder of the nose (disorder)\Congenital anomaly of nose\Blepharonasofacial malformation syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of nose AND/OR nasopharynx (disorder)\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Blepharonasofacial malformation syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of nose AND/OR nasopharynx (disorder)\Disorder of the nose (disorder)\Congenital anomaly of nose\Blepharonasofacial malformation syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of nose\Blepharonasofacial malformation syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharonasofacial malformation syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of face (disorder)\Disorder of the nose (disorder)\Congenital anomaly of nose\Blepharonasofacial malformation syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of nose\Blepharonasofacial malformation syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharonasofacial malformation syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Blepharonasofacial malformation syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of the nose (disorder)\Congenital anomaly of nose\Blepharonasofacial malformation syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Nose finding\Disorder of the nose (disorder)\Congenital anomaly of nose\Blepharonasofacial malformation syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Blepharonasofacial malformation syndrome (disorder)
• \Disease\Ear, nose and throat disorder\Disorder of the nose (disorder)\Congenital anomaly of nose\Blepharonasofacial malformation syndrome (disorder)
• \Disease\affection de la tête\Disorder of nose AND/OR nasopharynx (disorder)\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Blepharonasofacial malformation syndrome (disorder)
• \Disease\affection de la tête\Disorder of nose AND/OR nasopharynx (disorder)\Disorder of the nose (disorder)\Congenital anomaly of nose\Blepharonasofacial malformation syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of nose\Blepharonasofacial malformation syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharonasofacial malformation syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Disorder of the nose (disorder)\Congenital anomaly of nose\Blepharonasofacial malformation syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of nose\Blepharonasofacial malformation syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharonasofacial malformation syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Blepharonasofacial malformation syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Blepharonasofacial malformation syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Blepharonasofacial malformation syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of nose\Blepharonasofacial malformation syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharonasofacial malformation syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Blepharonasofacial malformation syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Blepharonasofacial malformation syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Blepharonasofacial malformation syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Blepharonasofacial malformation syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of nose\Blepharonasofacial malformation syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharonasofacial malformation syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Blepharonasofacial malformation syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1008471000172112	syndrome de Pashayan	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3324386011	Blepharonasofacial malformation syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324387019	Blepharonasofacial malformation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324388012	Pashayan syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324389016	Pashayan Prozansky syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
751641000241112	syndrome blépharo-naso-facial (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
888591000172112	syndrome blépharo-naso-facial	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3324390013	A rare otorhinolaryngological malformation syndrome with characteristics of a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability. Reported in 3 families to date. The facies has a mask-like appearance due to weakness of facial muscles and lacrimal duct obstruction is characteristic. Clinical features also include telecanthus, bulky nose, broad nasal bridge, sometimes a hypoplastic midface, longitudinal cheek furrows, trapezoidal upper lip and malformation of the ears. Intellectual disability, cutaneous syndactyly, torsion dystonia, increased deep tendon reflexes; Babinski sign, poor coordination and joint laxity are also observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada French language reference set (foundation metadata concept)

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