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89545001: Face structure (body structure)


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

Descriptions:

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)


1310 descendants. Search Descendants:

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
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) Finding site False Face structure Inferred relationship Some 4
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) Finding site False Face structure Inferred relationship Some 4
Craniosynostosis Boston type (disorder) Finding site False Face structure Inferred relationship Some 5
Cerebrooculonasal syndrome (disorder) Finding site False Face structure Inferred relationship Some 3
Ehlers-Danlos syndrome musculocontractural type (disorder) Finding site False Face structure Inferred relationship Some 4
Craniosynostosis Boston type (disorder) Finding site True Face structure Inferred relationship Some 4
Filippi syndrome (disorder) Finding site False Face structure Inferred relationship Some 7
Frank-Ter Haar syndrome (disorder) Finding site True Face structure Inferred relationship Some 3
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Finding site True Face structure Inferred relationship Some 6
Magnetic resonance imaging of face without contrast (procedure) Procedure site - Direct (attribute) True Face structure Inferred relationship Some 1
Magnetic resonance imaging of face and orbit with contrast (procedure) Procedure site - Direct (attribute) True Face structure Inferred relationship Some 2
Chudley-Lowry-Hoars syndrom Finding site False Face structure Inferred relationship Some 1
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder) Finding site False Face structure Inferred relationship Some 4
Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Fine Lubinsky syndrome (disorder) Finding site False Face structure Inferred relationship Some 4
Hall Riggs syndrome (disorder) Finding site False Face structure Inferred relationship Some 4
Short stature with webbed neck and congenital heart disease syndrome (disorder) Finding site False Face structure Inferred relationship Some 5
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) Finding site False Face structure Inferred relationship Some 10
Deafness and intellectual disability Martin Probst type syndrome (disorder) Finding site False Face structure Inferred relationship Some 4
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Finding site False Face structure Inferred relationship Some 11
Magnetic resonance imaging of face and orbit without contrast (procedure) Procedure site - Direct (attribute) True Face structure Inferred relationship Some 2
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Finding site False Face structure Inferred relationship Some 3
Intellectual disability, epilepsy, bulbous nose syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Holmes-Gangs syndrom Finding site False Face structure Inferred relationship Some 1
Juberg Marsidi syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Puerto Rican infant hypotonia syndrome (disorder) Finding site False Face structure Inferred relationship Some 5
Schilbach Rott syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Goldberg Shprintzen megacolon syndrome (disorder) Finding site False Face structure Inferred relationship Some 9
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder) Finding site False Face structure Inferred relationship Some 5
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) Finding site False Face structure Inferred relationship Some 4
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Finding site False Face structure Inferred relationship Some 4
Juberg Hayward syndrome (disorder) Finding site False Face structure Inferred relationship Some 5
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder) Finding site False Face structure Inferred relationship Some 4
Robinow-liknande syndrom Finding site False Face structure Inferred relationship Some 6
Lymphedema, atrial septal defect, facial changes syndrome (disorder) Finding site False Face structure Inferred relationship Some 3
Acrofrontofacionasal dysostosis type 2 Finding site False Face structure Inferred relationship Some 6
Joubert syndrome with orofaciodigital defect (disorder) Finding site False Face structure Inferred relationship Some 6
MRI of orbit, face and neck without contrast Procedure site - Direct (attribute) True Face structure Inferred relationship Some 4
Kapur Toriello syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Isotretinoin embryopathy-like syndrome (disorder) Finding site False Face structure Inferred relationship Some 5
Magnetic resonance imaging of orbit, face and neck with contrast (procedure) Procedure site - Direct (attribute) True Face structure Inferred relationship Some 4
Macrocephaly, short stature, paraplegia syndrome (disorder) Finding site False Face structure Inferred relationship Some 7
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) Finding site False Face structure Inferred relationship Some 6
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) Finding site False Face structure Inferred relationship Some 7
Oculocerebrofacial syndrome Kaufman type (disorder) Finding site False Face structure Inferred relationship Some 5
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) Finding site False Face structure Inferred relationship Some 2
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Finding site False Face structure Inferred relationship Some 4
Oro-facial digital syndrome type 10 (disorder) Finding site False Face structure Inferred relationship Some 4
Oro-facial digital syndrome type 5 (disorder) Finding site False Face structure Inferred relationship Some 4
Oro-facial digital syndrome type 8 (disorder) Finding site False Face structure Inferred relationship Some 4
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) Finding site False Face structure Inferred relationship Some 6
Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder) Finding site False Face structure Inferred relationship Some 2
Severe X-linked intellectual disability Gustavson type (disorder) Finding site False Face structure Inferred relationship Some 6
Toriello Carey syndrome Finding site True Face structure Inferred relationship Some 1
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) Finding site False Face structure Inferred relationship Some 2
Perlman syndrome (disorder) Finding site False Face structure Inferred relationship Some 2
Ectodermal dysplasia with blindness syndrome (disorder) Finding site False Face structure Inferred relationship Some 5
Cyst of face (disorder) Finding site True Face structure Inferred relationship Some 1
Endocrine-cerebro-osteodysplasia syndrome (disorder) Finding site False Face structure Inferred relationship Some 7
Okamoto syndrome (disorder) Finding site False Face structure Inferred relationship Some 5
Endocrine-cerebro-osteodysplasia syndrome (disorder) Finding site True Face structure Inferred relationship Some 4
Faciocardiorenal syndrome (disorder) Finding site False Face structure Inferred relationship Some 3
Microlissencephaly micromelia syndrome (disorder) Finding site False Face structure Inferred relationship Some 6
Ramos Arroyo syndrome (disorder) Finding site False Face structure Inferred relationship Some 2
Simpson-Golabi-Behmel syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Simpson-Golabi-Behmels syndrom, typ 2 Finding site False Face structure Inferred relationship Some 1
Noonan syndrome-like disorder with loose anagen hair (disorder) Finding site False Face structure Inferred relationship Some 3
Pierre Robin sequence faciodigital anomaly syndrome (disorder) Finding site False Face structure Inferred relationship Some 3
Nasopalpebral lipoma coloboma syndrome (disorder) Finding site False Face structure Inferred relationship Some 3
Polyvalvular heart disease syndrome (disorder) Finding site False Face structure Inferred relationship Some 2
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) Finding site True Face structure Inferred relationship Some 3
Renier-Gabreels-Jaspers syndrom Finding site False Face structure Inferred relationship Some 2
Diprosopus tetrophthalmus Finding site False Face structure Inferred relationship Some 2
Diprosopus Finding site False Face structure Inferred relationship Some 2
Opodidymus Finding site False Face structure Inferred relationship Some 2
Cephalodiprosopus Finding site False Face structure Inferred relationship Some 2
Kleefstra syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder) Finding site False Face structure Inferred relationship Some 4
Hypertelorism Teebi type (disorder) Finding site False Face structure Inferred relationship Some 4
Janiceps Finding site False Face structure Inferred relationship Some 2
Crisponi syndrome (disorder) Finding site False Face structure Inferred relationship Some 6
Craniomicromelic syndrome (disorder) Finding site False Face structure Inferred relationship Some 6
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) Finding site False Face structure Inferred relationship Some 5
Keutel syndrome (disorder) Finding site False Face structure Inferred relationship Some 6
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Finding site False Face structure Inferred relationship Some 7
Autosomal recessive faciodigitogenital syndrome (disorder) Finding site False Face structure Inferred relationship Some 4
Intellectual disability Buenos Aires type (disorder) Finding site True Face structure Inferred relationship Some 1
Neurofaciodigitorenal syndrome (disorder) Finding site False Face structure Inferred relationship Some 4
Weaver Williams syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
X-linked intellectual disability Nascimento type (disorder) Finding site True Face structure Inferred relationship Some 1
Weaver Williams syndrome (disorder) Finding site False Face structure Inferred relationship Some 3
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) Finding site False Face structure Inferred relationship Some 6
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) Finding site True Face structure Inferred relationship Some 4
Cyprus facial neuromusculoskeletal syndrome (disorder) Finding site False Face structure Inferred relationship Some 5
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) Finding site False Face structure Inferred relationship Some 4
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) Finding site False Face structure Inferred relationship Some 6
Epilepsy telangiectasia syndrome (disorder) Finding site False Face structure Inferred relationship Some 6
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Finding site False Face structure Inferred relationship Some 7
Ichthyosis, oral and digital anomalies syndrome Finding site False Face structure Inferred relationship Some 3
Hemifacial hyperplasia strabismus syndrome Finding site False Face structure Inferred relationship Some 4
Marfanoid habitus with autosomal recessive intellectual disability syndrome Finding site False Face structure Inferred relationship Some 3

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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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