1216943004: Mandibulofacial dysostosis with alopecia (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Skin AND/OR mucosa finding\Skin finding\...
• \Hair finding\Disorder of hair\Alopecia\Mandibulofacial dysostosis with alopecia
• \Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Mandibulofacial dysostosis with alopecia
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Alopecia\Mandibulofacial dysostosis with alopecia
• \General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Mandibulofacial dysostosis with alopecia
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Mandibulofacial dysostosis with alopecia
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\...
• \Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disorder of face\Lesion of face\Mandibulofacial dysostosis with alopecia
• \Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
• \Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disorder of head\Disorder of face\Lesion of face\Mandibulofacial dysostosis with alopecia
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
• \Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Mandibulofacial dysostosis with alopecia
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Alopecia\Mandibulofacial dysostosis with alopecia
• \Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Mandibulofacial dysostosis with alopecia
• \Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \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 face bones\Mandibulofacial dysostosis with alopecia
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Mandibulofacial dysostosis with alopecia
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Mandibulofacial dysostosis with alopecia
• \Musculoskeletal finding\Musculoskeletal disorder\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 face bones\Mandibulofacial dysostosis with alopecia
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Mandibulofacial dysostosis with alopecia
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Mandibulofacial dysostosis with alopecia
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Mandibulofacial dysostosis with alopecia
• \Disease\Genetic disease\Mandibulofacial dysostosis with alopecia
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Mandibulofacial dysostosis with alopecia
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Mandibulofacial dysostosis with alopecia
• \Disease\Disorder of body system\Musculoskeletal disorder\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 face bones\Mandibulofacial dysostosis with alopecia
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Mandibulofacial dysostosis with alopecia
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Mandibulofacial dysostosis with alopecia
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Mandibulofacial dysostosis with alopecia
• \Disease\Disorder of head\Disorder of face\Lesion of face\Mandibulofacial dysostosis with alopecia
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disease\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Mandibulofacial dysostosis with alopecia
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Mandibulofacial dysostosis with alopecia
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Mandibulofacial dysostosis with alopecia
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Mandibulofacial dysostosis with alopecia
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Mandibulofacial dysostosis with alopecia
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Mandibulofacial dysostosis with alopecia

Status: current, Primitive. Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5033768010	Mandibulofacial dysostosis with alopecia	en	Synonym	Active	Case insensitive	SNOMED CT core
5033769019	MFDA - mandibulofacial dysostosis with alopecia	en	Synonym	Active	Case sensitive	SNOMED CT core
5033770018	Mandibulofacial dysostosis with alopecia (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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