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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

1358 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 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
Hypertrichosis and acromegaloid facial appearance syndrome Finding site False Face structure Inferred relationship Some 2
Perlman syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Chromosome Xq28 trisomy 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
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome 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 syndrome 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
Craniosynostosis with facial dysmorphism and brachydactyly syndrome 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-like syndrome 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
Maxillofacial bone structure 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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