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\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Mandibulofacial dysostosis with alopecia
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Mandibulofacial dysostosis with alopecia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Mandibulofacial dysostosis with alopecia
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Mandibulofacial dysostosis with alopecia
\Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\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 malformation\Congenital malformation syndrome\Multiple system malformation syndrome\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\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\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Mandibulofacial dysostosis with alopecia
\Disease\Congenital disease\Congenital malformation\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 malformation\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 malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with alopecia
\Disease\Developmental disorder\Congenital malformation\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 malformation\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Mandibulofacial dysostosis with alopecia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Mandibulofacial dysostosis with alopecia
\Disease\Developmental disorder\Congenital malformation\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 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. Date: 30-Apr 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5033768010 Mandibulofacial dysostosis with alopecia en Synonym Active Entire term case insensitive SNOMED CT core module

5033769019 MFDA - mandibulofacial dysostosis with alopecia en Synonym Active Entire term case sensitive SNOMED CT core module

5033770018 Mandibulofacial dysostosis with alopecia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mandibulofacial dysostosis with alopecia	Is a	Dysostosis	true	Inferred relationship	Existential restriction modifier
Mandibulofacial dysostosis with alopecia	Is a	Congenital anomaly of face bones	true	Inferred relationship	Existential restriction modifier
Mandibulofacial dysostosis with alopecia	Is a	Alopecia	true	Inferred relationship	Existential restriction modifier
Mandibulofacial dysostosis with alopecia	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Mandibulofacial dysostosis with alopecia	Is a	Lesion of face	true	Inferred relationship	Existential restriction modifier
Mandibulofacial dysostosis with alopecia	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier
Mandibulofacial dysostosis with alopecia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Mandibulofacial dysostosis with alopecia	Finding site	Bone structure of face	true	Inferred relationship	Existential restriction modifier	1
Mandibulofacial dysostosis with alopecia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Mandibulofacial dysostosis with alopecia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Mandibulofacial dysostosis with alopecia	Finding site	Hair structure	true	Inferred relationship	Existential restriction modifier	2
Mandibulofacial dysostosis with alopecia	Associated morphology	Absence	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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