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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

1346 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
Primary angiosarcoma of face Finding site False Face structure Inferred relationship Some 2
Primary angiosarcoma of face Finding site True Face structure Inferred relationship Some 1
Primary rhabdomyosarcoma of face (disorder) Finding site True Face structure Inferred relationship Some 1
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Finding site True Face structure Inferred relationship Some 3
16p11.2p12.2 microdeletion syndrome (disorder) Finding site True Face structure Inferred relationship Some 3
Combined deficiency of sialidase AND beta galactosidase Finding site True Face structure Inferred relationship Some 3
Four X syndrome Finding site True Face structure Inferred relationship Some 2
X-linked intellectual disability hypotonic face syndrome Finding site True Face structure Inferred relationship Some 1
Increased lower face height Finding site True Face structure Inferred relationship Some 1
Decreased lower face height Finding site True Face structure Inferred relationship Some 1
Angelman syndrome due to maternal monosomy 15q11q13 (disorder) Finding site True Face structure Inferred relationship Some 2
2p15p16.1 microdeletion syndrome (disorder) Finding site True Face structure Inferred relationship Some 3
Primary leiomyosarcoma of face (disorder) Finding site False Face structure Inferred relationship Some 2
N syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Finding site True Face structure Inferred relationship Some 1
Tall stature, intellectual disability, renal anomalies syndrome Finding site True Face structure Inferred relationship Some 1
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Finding site True Face structure Inferred relationship Some 4
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Finding site True Face structure Inferred relationship Some 3
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome Finding site True Face structure Inferred relationship Some 5
SIX homeobox 2-related frontonasal dysplasia (disorder) Finding site True Face structure Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 3 (disorder) Finding site True Face structure Inferred relationship Some 2
Fried syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome Finding site True Face structure Inferred relationship Some 1
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Finding site True Face structure Inferred relationship Some 1
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Finding site True Face structure Inferred relationship Some 3
Kosaki overgrowth syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
X-linked intellectual disability with marfanoid habitus (disorder) Finding site True Face structure Inferred relationship Some 1
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome Finding site True Face structure Inferred relationship Some 2
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome Finding site True Face structure Inferred relationship Some 1
Oral-facial-digital syndrome with short stature and brachymesophalangia Finding site True Face structure Inferred relationship Some 4
Primary rhabdomyosarcoma of face (disorder) Finding site False Face structure Inferred relationship Some 2
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Finding site True Face structure Inferred relationship Some 1
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Gabriele-de Vries syndrome Finding site True Face structure Inferred relationship Some 1
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome Finding site True Face structure Inferred relationship Some 1
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Finding site True Face structure Inferred relationship Some 1
Mucopolysaccharidosis-like plus disease Finding site True Face structure Inferred relationship Some 3
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Finding site True Face structure Inferred relationship Some 2
Witteveen Kolk syndrome Finding site True Face structure Inferred relationship Some 1
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Finding site True Face structure Inferred relationship Some 3
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Finding site True Face structure Inferred relationship Some 3
Facial burn pressure therapy mask (physical object) Has device intended site (attribute) True Face structure Inferred relationship Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Basel Vanagaite Smirin Yosef syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Hallermann Streiff like syndrome Finding site True Face structure Inferred relationship Some 2
Sanjad Sakati syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Eye defects, arachnodactyly, cardiopathy syndrome Finding site True Face structure Inferred relationship Some 3
Fryns Smeets Thiry syndrome Finding site True Face structure Inferred relationship Some 1
Congenital hydrocephalus, low insertion of umbilicus syndrome Finding site True Face structure Inferred relationship Some 3
Flushing of face caused by spicy food (finding) Finding site True Face structure Inferred relationship Some 3
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) Finding site True Face structure Inferred relationship Some 4
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome Finding site True Face structure Inferred relationship Some 1
Multiple injuries of face Finding site True Face structure Inferred relationship Some 1
Facial lymphedema due to acne Finding site True Face structure Inferred relationship Some 1
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Finding site True Face structure Inferred relationship Some 3
PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome Finding site True Face structure Inferred relationship Some 1
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome Finding site True Face structure Inferred relationship Some 4
Facial lymphoedema due to rosacea Finding site True Face structure Inferred relationship Some 1
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) Finding site True Face structure Inferred relationship Some 3
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome Finding site True Face structure Inferred relationship Some 4
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Finding site True Face structure Inferred relationship Some 4
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Finding site True Face structure Inferred relationship Some 3
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Finding site True Face structure Inferred relationship Some 5
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Finding site True Face structure Inferred relationship Some 2
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
QRICH1-related intellectual disability, chondrodysplasia syndrome Finding site True Face structure Inferred relationship Some 2
Keppen Lubinsky syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Pierpont syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome Finding site True Face structure Inferred relationship Some 3
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Finding site True Face structure Inferred relationship Some 2
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) Finding site True Face structure Inferred relationship Some 4
1p35.2 microdeletion syndrome Finding site True Face structure Inferred relationship Some 3
Xq25 microduplication syndrome Finding site True Face structure Inferred relationship Some 3
9q21.13 microdeletion syndrome Finding site True Face structure Inferred relationship Some 3
Lethal brain and heart developmental defects syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
11q22.2q22.3 microdeletion syndrome Finding site True Face structure Inferred relationship Some 2
20q11.2 microdeletion syndrome (disorder) Finding site True Face structure Inferred relationship Some 4
8q24.3 microdeletion syndrome (disorder) Finding site True Face structure Inferred relationship Some 3
SIM1-related Prader-Willi-like syndrome Finding site True Face structure Inferred relationship Some 1
MAGE family member L2-related Prader-Willi-like syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Finding site True Face structure Inferred relationship Some 3
Frontorhiny (disorder) Finding site True Face structure Inferred relationship Some 2
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) Finding site True Face structure Inferred relationship Some 4
PDE4D haploinsufficiency syndrome Finding site True Face structure Inferred relationship Some 2
FG syndrome type 1 (disorder) Finding site True Face structure Inferred relationship Some 2
Night blindness, skeletal anomalies, dysmorphism syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Symptomatic form of fragile X syndrome in female carrier (disorder) Finding site True Face structure Inferred relationship Some 2
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Finding site True Face structure Inferred relationship Some 1
PYCR2-related microcephaly, progressive leucoencephalopathy Finding site True Face structure Inferred relationship Some 1

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