711543008: Mandibulofacial dysostosis with microcephaly (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of head and neck region\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\Mandibulofacial dysostosis with microcephaly

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with microcephaly
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with microcephaly

\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with microcephaly
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with microcephaly
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with microcephaly
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with microcephaly
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with microcephaly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Mandibulofacial dysostosis with microcephaly

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mandibulofacial dysostosis with microcephaly	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Mandibulofacial dysostosis with microcephaly	Occurrence	Congenital	true	Inferred relationship	Some	1
Mandibulofacial dysostosis with microcephaly	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	1
Mandibulofacial dysostosis with microcephaly	Finding site	Face structure	true	Inferred relationship	Some	1
Mandibulofacial dysostosis with microcephaly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Mandibulofacial dysostosis with microcephaly	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1

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
3078731016	Mandibulofacial dysostosis, Guion-Almeida type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3078788019	Mandibulofacial dysostosis with microcephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3078793016	Mandibulofacial dysostosis with microcephaly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
11371621000172112	syndrome MFDM (mandibulofacial dysostosis with microcephaly)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
11371631000172110	dysostose mandibulofaciale avec microcéphalie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
11371641000172115	syndrome de dysostose mandibulofaciale et microcéphalie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4328511000172117	dysostosis mandibulofacialis met microcefalie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4328521000172110	mandibulofaciale dysostose van type Guion-Almeida	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4328531000172113	MFDM	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4328541000172118	mandibulofaciale dysostose met microcefalie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)