89545001: structuur van aangezicht (lichaamsstructuur)

SNOMED CT Concept\Body structure\Anatomical or acquired body structure (body structure)\Anatomical structure\Body region structure\Body part structure\Upper body structure\Upper body part structure\Structure of head and/or neck (body structure)\...

\Face and/or neck structure (body structure)\Face structure

\Head structure\Head part\Structure of subregion of head\Face structure

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Face structure	Is a	Face and/or neck structure (body structure)	false	Inferred relationship	Some
Face structure	Is a	Head part	false	Inferred relationship	Some
Face structure	Part of	Entire head	false	Additional relationship	Some
Face structure	Is a	Structure of subregion of head	true	Inferred relationship	Some
Face structure	Is a	Face and/or neck structure (body structure)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Jawad syndrome	Finding site	False	Face structure	Inferred relationship	Some	3
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
syndroom van hypertrichose en acromegaloïde aangezichtskenmerken (aandoening)	Finding site	False	Face structure	Inferred relationship	Some	2
Perlman syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Xq28-duplicatiesyndroom	Finding site	False	Face structure	Inferred relationship	Some	1
X-linked intellectual disability with plagiocephaly syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Pyknoachondrogenesis (disorder)	Finding site	True	Face structure	Inferred relationship	Some	3
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Cloverleaf skull with multiple congenital anomalies syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
Hadziselimovic syndrome	Finding site	True	Face structure	Inferred relationship	Some	1
Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie (aandoening)	Finding site	False	Face structure	Inferred relationship	Some	1
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
Puerto Rican infant hypotonia syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Ectodermal dysplasia with blindness syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	3
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	3
Oculocerebrofacial syndrome Kaufman type (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Renier-Gabreels-Jasper-syndroom	Finding site	False	Face structure	Inferred relationship	Some	1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	3
Autosomal recessive faciodigitogenital syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Acrofrontofacionasal dysostosis type 2	Finding site	False	Face structure	Inferred relationship	Some	1
FG syndrome	Finding site	True	Face structure	Inferred relationship	Some	1
Renal dysplasia with limb defect syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
Bohring Opitz syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Epilepsy telangiectasia syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	4
15q overgrowth syndrome	Finding site	True	Face structure	Inferred relationship	Some	1
Isotretinoin embryopathy-like syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	3
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
Van den Ende-Gupta syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Gingival fibromatosis with facial dysmorphism syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Craniomicromelic syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	3
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Neurofaciodigitorenal syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Robinow-like syndrome	Finding site	False	Face structure	Inferred relationship	Some	3
Severe X-linked intellectual disability Gustavson type (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Lethal faciocardiomelic dysplasia (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
Cyprus facial neuromusculoskeletal syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Goldberg Shprintzen megacolon syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
syndroom van craniosynostose, dysmorfie en brachydactylie	Finding site	False	Face structure	Inferred relationship	Some	1
Cataract, congenital heart disease, neural tube defect syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Hypertelorism Teebi type (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
Filippi syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	3
Cerebrooculonasal syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
SCARF syndrome	Finding site	True	Face structure	Inferred relationship	Some	3
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
Oral-facial-digital syndrome	Finding site	True	Face structure	Inferred relationship	Some	1
Ehlers-Danlos syndrome musculocontractural type (disorder)	Finding site	True	Face structure	Inferred relationship	Some	3
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Tel Hashomer camptodactyly syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	4
Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Camptodactyly syndrome Guadalajara type 1 (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
BSG syndrome	Finding site	True	Face structure	Inferred relationship	Some	1
Nasopalpebral lipoma coloboma syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Biopsy of face and neck using ultrasonographic guidance (procedure)	Procedure site - Direct (attribute)	True	Face structure	Inferred relationship	Some	1
Biopsy of face and neck using ultrasonographic guidance (procedure)	Procedure site - Direct (attribute)	True	Face structure	Inferred relationship	Some	3
Ultrasonography of face and neck	Procedure site - Direct (attribute)	True	Face structure	Inferred relationship	Some	1
Thakker Donnai syndrome	Finding site	True	Face structure	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia Genevieve type (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Zechi Ceide syndrome	Finding site	True	Face structure	Inferred relationship	Some	3
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation	Finding site	True	Face structure	Inferred relationship	Some	1
Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Roifman syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome	Finding site	True	Face structure	Inferred relationship	Some	1
9q31.1q31.3 microdeletion syndrome	Finding site	True	Face structure	Inferred relationship	Some	1
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
13q12.3 microdeletion syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
14q24.1q24.3 microdeletion syndrome	Finding site	True	Face structure	Inferred relationship	Some	2
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Finding site	True	Face structure	Inferred relationship	Some	2
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome	Finding site	True	Face structure	Inferred relationship	Some	2
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome	Finding site	True	Face structure	Inferred relationship	Some	1
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	3
Robinow syndrome	Finding site	True	Face structure	Inferred relationship	Some	2
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Craniofacial dysplasia osteopenia syndrome	Finding site	True	Face structure	Inferred relationship	Some	1
Flat face, microstomia, ear anomaly syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	3
Pitt-Hopkins-achtig syndroom (aandoening)	Finding site	False	Face structure	Inferred relationship	Some	1
Emery Nelson syndrome	Finding site	True	Face structure	Inferred relationship	Some	2
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Finding site	True	Face structure	Inferred relationship	Some	2
Multiple congenital anomalies, hypotonia, seizures syndrome type 2	Finding site	True	Face structure	Inferred relationship	Some	1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	3
Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	3
Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Needle stick injury of cheek	Finding site	False	Face structure	Inferred relationship	Some	2
Needle stick injury of nose (disorder)	Finding site	False	Face structure	Inferred relationship	Some	2
Temple syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Lethal polymalformative syndrome Boissel type	Finding site	True	Face structure	Inferred relationship	Some	1
botstructuur van maxillofaciaal bot (lichaamsstructuur)	Is a	False	Face structure	Inferred relationship	Some
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	3
Severe intellectual disability, progressive spastic diplegia syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1

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Reference Sets

Anatomy structure and entire association reference set (foundation metadata concept)

Dutch pathology simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
148464015	Face	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
148465019	Face, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
508558018	Face structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
832461013	Face structure (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
861721000146119	structuur van facies (lichaamsstructuur)	nl	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
861731000146117	structuur van facies	nl	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
861741000146113	facies	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
861751000146111	gelaat	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
861761000146114	aangezicht	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2567631000146119	structuur van aangezicht	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2567641000146110	structuur van aangezicht (lichaamsstructuur)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12667961000146110	gezicht	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12667971000146116	Voorkant van het hoofd.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)