398302004: congenitale afwijking van aangezicht (aandoening)

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

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

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of face (disorder)	Is a	Congenital anomaly of head	true	Inferred relationship	Some
Congenital anomaly of face (disorder)	Is a	Ear, face and neck congenital anomalies	false	Inferred relationship	Some
Congenital anomaly of face (disorder)	Is a	Disorder of face (disorder)	true	Inferred relationship	Some
Congenital anomaly of face (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of face (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Congenital anomaly of face (disorder)	Finding site	Face structure	false	Inferred relationship	Some	1
Congenital anomaly of face (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Congenital anomaly of face (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Congenital anomaly of face (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of face (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Congenital anomaly of face (disorder)	Finding site	Face structure	false	Inferred relationship	Some	2
Congenital anomaly of face (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of face (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital anomaly of face (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Internasal dysostosis	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Kohlschutter's syndrome	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Macrogenia	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital anomaly of lip	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Cerebrofacial dysplasia	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital anosmia	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital absence of nose	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital distichiasis	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital abnormality of oral cavity	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Facial asymmetry	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital anomaly of face bones	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Gingival cyst of newborn	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital atresia of nares	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Periodontal Ehlers-Danlos syndrome (disorder)	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Cherubism	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Nasal glial heterotopia (disorder)	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Deep overbite	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital absence of eyelash	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Nasal encephalocele	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Horizontal overbite	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Syphilitic saddle nose	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital blepharophimosis	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Distichiasis	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital anomaly of jaw	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Ectopic cilia of eyelid	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Fistula of congenital auricle	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Deformity of nasal sinus wall	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital perforation of the nasal sinus wall	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital deformity of face (disorder)	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Preauricular sinus	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Preauricular fistula	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Mandibuloacral dysostosis	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Buccal bifurcation cyst	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Saddle nose	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital anomaly of nose	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital anomaly of nasal sinuses	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Microstomia	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital macrostomia	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital anomaly of teeth	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenitally short snout	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Crouzon syndrome	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital absence of chin (disorder)	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital malformation of the eyebrow	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital structural abnormality of eyelid	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
heterozygote otospondylomega-epifysaire dysplasie	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Potter's facies	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Macrogenia	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Ear, face and neck congenital anomalies	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Fordyce spots of buccal mucosa (disorder)	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Multiple malformation syndrome with facial defects as major feature	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Arteriovenous malformation of face (disorder)	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Fronto-malar faciosynostosis	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
congenitale ectodermale dysplasie van aangezicht	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital malformation of tongue, mouth and pharynx	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Robinow-like syndrome	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital melanocytic nevus of face	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Noonan syndrome-like disorder with loose anagen hair (disorder)	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Diprosopus	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Floating-Harbour syndrome	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Preauricular dimple	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Centrofacial lentiginosis syndrome	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Naso-labial cyst	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder)	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
heterozygote otospondylomega-epifysaire dysplasie	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Robinow syndrome	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital anomaly of lacrimal bone	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder)	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Oto-palato-digital syndrome, type I	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Oto-palato-digital syndrome, type II	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Preauricular cyst	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital ankylosis of temporomandibular joint (disorder)	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Basal encephalocele (disorder)	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
de Barsey syndrome	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital infiltrating lipomatosis of face (disorder)	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Isolated asymmetric crying facies	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital facial dysplasia (disorder)	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
syndroom van Wiedemann-Steiner	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Median facial cleft (disorder)	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
congenitale ectodermale dysplasie van aangezicht	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Cerebrofacial dysplasia	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital anomaly of face due to compression (disorder)	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1766221014	Congenital anomaly of face (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1777842010	Congenital anomaly of face	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786204011	Facial malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786205012	Facial dysmorphism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1817621000146115	congenitale afwijking van aangezicht	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1817631000146118	congenitale afwijking van gelaat	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1817641000146114	congenitale afwijking van aangezicht (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)