1216943004: Mandibulofacial dysostosis with alopecia (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \constatation à propos de la pilosité\trouble de la pilosité\alopécie (trouble)\Mandibulofacial dysostosis with alopecia
• \affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Mandibulofacial dysostosis with alopecia
• \constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\alopécie (trouble)\Mandibulofacial dysostosis with alopecia
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Mandibulofacial dysostosis with alopecia
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Mandibulofacial dysostosis with alopecia
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Finding of face\...
• \Lesion of face (finding)\Mandibulofacial dysostosis with alopecia
• \Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
• \Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \affection de la tête\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \affection de la tête\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Mandibulofacial dysostosis with alopecia
• \Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\alopécie (trouble)\Mandibulofacial dysostosis with alopecia
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Mandibulofacial dysostosis with alopecia
• \Musculoskeletal finding\constatation à propos de l'os\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \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\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Mandibulofacial dysostosis with alopecia
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Mandibulofacial dysostosis with alopecia
• \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\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \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\Mandibulofacial dysostosis with alopecia
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Mandibulofacial dysostosis with alopecia
• \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\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Mandibulofacial dysostosis with alopecia
• \Disease\Genetic disease\Mandibulofacial dysostosis with alopecia
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Mandibulofacial dysostosis with alopecia
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Mandibulofacial dysostosis with alopecia
• \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\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \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\Mandibulofacial dysostosis with alopecia
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Mandibulofacial dysostosis with alopecia
• \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\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Mandibulofacial dysostosis with alopecia
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disease\affection de la tête\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Mandibulofacial dysostosis with alopecia
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Mandibulofacial dysostosis with alopecia
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Mandibulofacial dysostosis with alopecia
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Mandibulofacial dysostosis with alopecia
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Mandibulofacial dysostosis with alopecia
• \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\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Mandibulofacial dysostosis with alopecia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5033768010	Mandibulofacial dysostosis with alopecia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5033769019	MFDA - mandibulofacial dysostosis with alopecia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5033770018	Mandibulofacial dysostosis with alopecia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5033771019	A rare mandibulofacial dysostosis with the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism and eyelid anomalies among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction and conductive hearing loss.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

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