1891000146106: faciale dysplasie (aandoening)

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

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Lesion of face\Congenital facial dysplasia (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital facial dysplasia (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Congenital facial dysplasia (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital facial dysplasia (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital facial dysplasia (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Congenital facial dysplasia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital facial dysplasia (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Congenital facial dysplasia (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital facial dysplasia (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital facial dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Congenital facial dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital facial dysplasia (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2017. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital facial dysplasia (disorder)	Is a	Disorder of face (disorder)	false	Inferred relationship	Some
Congenital facial dysplasia (disorder)	Associated morphology	Dysplasia	false	Inferred relationship	Some
Congenital facial dysplasia (disorder)	Finding site	Face structure	false	Inferred relationship	Some
Congenital facial dysplasia (disorder)	Is a	Congenital anomaly of face (disorder)	true	Inferred relationship	Some
Congenital facial dysplasia (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Congenital facial dysplasia (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Congenital facial dysplasia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital facial dysplasia (disorder)	Is a	Lesion of face	true	Inferred relationship	Some
Congenital facial dysplasia (disorder)	Is a	Disorder of face (disorder)	false	Inferred relationship	Some
Congenital facial dysplasia (disorder)	Is a	Congenital disease (disorder)	false	Inferred relationship	Some
Congenital facial dysplasia (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital facial dysplasia (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Congenital facial dysplasia (disorder)	Is a	Congenital dysplasia (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-linked mandibulofacial dysostosis (disorder)	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Acrofacial dysostosis Rodriguez type (disorder)	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Acrofacial dysostosis Kennedy Teebi type (disorder)	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Acrofrontofacionasal dysostosis (disorder)	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Acrofacial dysostosis Palagonia type (disorder)	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Cerebrofacial dysplasia	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Craniofacial conodysplasia syndrome (disorder)	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Acrofacial dysostosis Catania type (disorder)	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
congenitale ectodermale dysplasie van aangezicht	Is a	False	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Patterson Stevenson Fontaine syndrome (disorder)	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Oculodento-osseous dysplasia	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Dentin dysplasia (disorder)	Is a	False	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Teebi Shaltout syndrome	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Fronto-naso-ethmoidal dysostosis (disorder)	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Familial osteodysplasia Anderson type (disorder)	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Naso-maxillary dysostosis	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Maxillo-zygomatic dysostosis	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Mandibuloacral dysostosis	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Otomandibular dysostosis	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Intermandibular dysostosis	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Internasal dysostosis	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Maxillary dysostosis	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Temporo-auro-mandibular dysostosis	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Acrofrontofacionasal dysostosis type 2	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Craniofrontonasal dysplasia (disorder)	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Mandibulofacial dysostosis with alopecia	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder)	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Congenital dysplasia of supratip of nose (disorder)	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some
Congenital infiltrating lipomatosis of face (disorder)	Is a	True	Congenital facial dysplasia (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
193261000146114	Congenital facial dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
193271000146115	Congenital facial dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
67721000146113	faciale dysplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4186651000146110	faciale dysplasie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)