89545001: Face structure (body structure)

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	del av	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
Holoprosencephaly and postaxial polydactyly syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
Hypospadias and intellectual disability syndrome Goldblatt type (disorder)	Finding site	False	Face structure	Inferred relationship	Some	3
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	6
Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Deafness with epiphyseal dysplasia and short stature syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	5
Potter sequence cleft lip and palate cardiopathy syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
Trisomy 17p (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
Trisomy 10p (disorder)	Finding site	False	Face structure	Inferred relationship	Some	5
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	4
Hypospadias and intellectual disability syndrome Goldblatt type (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
Ichthyosis cheek eyebrow syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
Microcephaly with deafness and intellectual disability syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	6
Shprintzen Goldberg omphalocele syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	10
Steinfeld syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	2
Trisomy 17p (disorder)	Finding site	False	Face structure	Inferred relationship	Some	3
Multicentric osteolysis nodulosis arthropathy spectrum (disorder)	Finding site	False	Face structure	Inferred relationship	Some	3
Arthrogryposis multiplex congenita and whistling face syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	3
Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	7
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	6
Syndromic hypoplasia of orbital border (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
Koolen De Vries syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
Syndromic hypoplasia of orbital border (disorder)	Finding site	False	Face structure	Inferred relationship	Some	3
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	7
Harrod syndrome	Finding site	True	Face structure	Inferred relationship	Some	4
Harrod syndrome	Finding site	False	Face structure	Inferred relationship	Some	6
Wolf Hirschhorn syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	4
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	6
Sonoda syndrome	Finding site	True	Face structure	Inferred relationship	Some	2
3C syndrome	Finding site	True	Face structure	Inferred relationship	Some	4
Hydrocephalus with cleft palate and joint contracture syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	10
3C syndrome	Finding site	False	Face structure	Inferred relationship	Some	5
Oro-facial digital syndrome type 11 (disorder)	Finding site	False	Face structure	Inferred relationship	Some	9
Oro-facial digital syndrome type 9 (disorder)	Finding site	False	Face structure	Inferred relationship	Some	7
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	5
X-linked intellectual disability Seemanova type (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Syndromic X-linked intellectual disability type 11 (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
X-linked intellectual disability Siderius type (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
X-linked intellectual disability Stevenson type (disorder)	Finding site	False	Face structure	Inferred relationship	Some	3
X-linked intellectual disability Stoll type (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
Pallister W syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
14q11.2 microdeletion syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	3
Carpenter-Waziris syndrom	Finding site	False	Face structure	Inferred relationship	Some	3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
X-linked intellectual disability Stevenson type (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
14q11.2 microdeletion syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	5
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	1
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	3
Short stature Brussels type (disorder)	Finding site	False	Face structure	Inferred relationship	Some	3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	3
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	3
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	5
Smith-Fineman-Myers syndrom	Finding site	False	Face structure	Inferred relationship	Some	3
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	6
Pyknoachondrogenesis (disorder)	Finding site	False	Face structure	Inferred relationship	Some	7
Pelviscapular dysplasia	Finding site	True	Face structure	Inferred relationship	Some	2
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	6
Lethal faciocardiomelic dysplasia (disorder)	Finding site	False	Face structure	Inferred relationship	Some	3
BSG syndrome	Finding site	False	Face structure	Inferred relationship	Some	4
syndrom med mikrocefali, intellektuell funktionsnedsättning samt falangeal och neurologisk anomali	Finding site	False	Face structure	Inferred relationship	Some	3
Hadziselimovic syndrome	Finding site	False	Face structure	Inferred relationship	Some	6
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	5
Microcephalus cleft palate syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	3
Cleft palate with short stature and vertebral anomaly syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	4
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	6
Cleft palate with short stature and vertebral anomaly syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	3
Gingival fibromatosis with facial dysmorphism syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	2
X-linked intellectual disability with plagiocephaly syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	4
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	6
8q22.1 microdeletion syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	3
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	4
Wilson Turner syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	2
Renal dysplasia with limb defect syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	5
Van den Ende-Gupta syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	3
Ulna fibula ray defect and brachydactyly syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	5
Chromosome Xq28 trisomy (disorder)	Finding site	False	Face structure	Inferred relationship	Some	3
Tel Hashomer camptodactyly syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	5
Camptodactyly syndrome Guadalajara type 1 (disorder)	Finding site	False	Face structure	Inferred relationship	Some	6
Acrofrontofacionasal dysostosis (disorder)	Finding site	False	Face structure	Inferred relationship	Some	5
Acrocraniofacial dysostosis (disorder)	Finding site	False	Face structure	Inferred relationship	Some	5
Acrocephalopolydactyly (disorder)	Finding site	False	Face structure	Inferred relationship	Some	3
Acromegaloid facial appearance syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	2
Acrootoocular syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	3
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
Bohring Opitz syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	3
Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	3
Anophthalmia plus syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	2
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	3
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	3
Cerebro-facio-thoracic dysplasia (disorder)	Finding site	False	Face structure	Inferred relationship	Some	3
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Finding site	False	Face structure	Inferred relationship	Some	6
Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	5
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	11
syndrom med kraniosynostos med ansiktsmissbildning och brakydaktyli	Finding site	False	Face structure	Inferred relationship	Some	6
Craniosynostosis and intracranial calcification syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	6
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	3
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	3
Frank-Ter Haar syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	5
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder)	Finding site	False	Face structure	Inferred relationship	Some	4

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Reference Sets

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

Administration location reference set, Swedish national medication list

Specimen collection site reference set

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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
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
1322221000052111	ansikte, struktur	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)
4683081000052115	ansiktet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)
4904051000052110	ansikte	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)