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89545001: Face structure (body structure)

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

Descriptions:

Id Description Lang Type Status Case? Module
148464015 Face en Synonym Active Entire term case insensitive SNOMED CT core module
508558018 Face structure en Synonym Active Entire term case insensitive SNOMED CT core module
832461013 Face structure (body structure) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1296 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Face structure Is a Face and/or neck structure false Inferred relationship Existential restriction modifier
Face structure Is a Head part false Inferred relationship Existential restriction modifier
Face structure Part of Entire head false Additional relationship Existential restriction modifier
Face structure Is a Structure of subregion of head true Inferred relationship Existential restriction modifier
Face structure Is a Face and/or neck structure true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Jawad syndrome Finding site False Face structure Inferred relationship Existential restriction modifier 3
Brain malformation, congenital heart disease, postaxial polydactyly syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Hypertrichosis and acromegaloid facial appearance syndrome Finding site False Face structure Inferred relationship Existential restriction modifier 2
Perlman syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Chromosome Xq28 trisomy Finding site False Face structure Inferred relationship Existential restriction modifier 1
X-linked intellectual disability with plagiocephaly syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Pterygium colli with intellectual disability and digital anomaly syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Epilepsy, microcephaly, skeletal dysplasia syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Pyknoachondrogenesis Finding site True Face structure Inferred relationship Existential restriction modifier 3
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Cloverleaf skull with multiple congenital anomalies syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type Finding site True Face structure Inferred relationship Existential restriction modifier 1
Brachymorphism with onychodysplasia and dysphalangism syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Finding site False Face structure Inferred relationship Existential restriction modifier 1
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Puerto Rican infant hypotonia syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Ectodermal dysplasia with blindness syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Microcephalus with brachydactyly and kyphoscoliosis syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Oculocerebrofacial syndrome Kaufman type Finding site True Face structure Inferred relationship Existential restriction modifier 1
Renier Gabreels Jasper syndrome Finding site False Face structure Inferred relationship Existential restriction modifier 1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Autosomal recessive faciodigitogenital syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Acrofrontofacionasal dysostosis type 2 Finding site False Face structure Inferred relationship Existential restriction modifier 1
FG syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Renal dysplasia with limb defect syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Bohring Opitz syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Epilepsy telangiectasia syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 4
15q overgrowth syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Isotretinoin embryopathy-like syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Van den Ende-Gupta syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Gingival fibromatosis with facial dysmorphism syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Craniomicromelic syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Deafness with skeletal dysplasia and lip granuloma syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Neurofaciodigitorenal syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Robinow-like syndrome Finding site False Face structure Inferred relationship Existential restriction modifier 3
Severe X-linked intellectual disability Gustavson type Finding site True Face structure Inferred relationship Existential restriction modifier 1
Lethal faciocardiomelic dysplasia Finding site True Face structure Inferred relationship Existential restriction modifier 2
Cyprus facial neuromusculoskeletal syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Goldberg Shprintzen megacolon syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Short stature with webbed neck and congenital heart disease syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Finding site False Face structure Inferred relationship Existential restriction modifier 1
Cataract, congenital heart disease, neural tube defect syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Hypertelorism Teebi type Finding site True Face structure Inferred relationship Existential restriction modifier 1
Adducted thumbs and arthrogryposis syndrome Christian type Finding site True Face structure Inferred relationship Existential restriction modifier 2
Filippi syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Cerebrooculonasal syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Oral-facial-digital syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Ehlers-Danlos syndrome musculocontractural type Finding site True Face structure Inferred relationship Existential restriction modifier 3
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Tel Hashomer camptodactyly syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome Finding site False Face structure Inferred relationship Existential restriction modifier 4
Overgrowth, macrocephaly, facial dysmorphism syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Camptodactyly syndrome Guadalajara type 1 Finding site True Face structure Inferred relationship Existential restriction modifier 2
Branchioskeletogenital syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Nasopalpebral lipoma coloboma syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Biopsy of face and neck using ultrasonographic guidance Procedure site - Direct True Face structure Inferred relationship Existential restriction modifier 1
Biopsy of face and neck using ultrasonographic guidance Procedure site - Direct True Face structure Inferred relationship Existential restriction modifier 3
Ultrasonography of face and neck Procedure site - Direct True Face structure Inferred relationship Existential restriction modifier 1
Thakker Donnai syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Spondyloepimetaphyseal dysplasia Genevieve type Finding site True Face structure Inferred relationship Existential restriction modifier 1
Zechi Ceide syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Malignant hyperthermia with arthrogryposis and torticollis syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Xylosyltransferase 1 congenital disorder of glycosylation Finding site True Face structure Inferred relationship Existential restriction modifier 1
Intellectual disability, facial dysmorphism, hand anomalies syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Roifman syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
9q31.1q31.3 microdeletion syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
13q12.3 microdeletion syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
14q24.1q24.3 microdeletion syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Robinow syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Craniofacial dysplasia osteopenia syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Flat face, microstomia, ear anomaly syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Pitt Hopkins-like syndrome Finding site False Face structure Inferred relationship Existential restriction modifier 1
Emery Nelson syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Finding site True Face structure Inferred relationship Existential restriction modifier 1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Progeroid and marfanoid aspect, lipodystrophy syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Intellectual disability, severe speech delay, mild dysmorphism syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Needle stick injury of cheek Finding site False Face structure Inferred relationship Existential restriction modifier 2
Needle stick injury of nose Finding site False Face structure Inferred relationship Existential restriction modifier 2
Temple syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency Finding site True Face structure Inferred relationship Existential restriction modifier 1
Lethal polymalformative syndrome Boissel type Finding site True Face structure Inferred relationship Existential restriction modifier 1
Maxillofacial bone structure Is a False Face structure Inferred relationship Existential restriction modifier
Marfanoid habitus, inguinal hernia, advanced bone age syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Severe intellectual disability, progressive spastic diplegia syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1

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