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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
Primary angiosarcoma of face Finding site False Face structure Inferred relationship Existential restriction modifier 2
Primary angiosarcoma of face Finding site True Face structure Inferred relationship Existential restriction modifier 1
Primary rhabdomyosarcoma of face Finding site True Face structure Inferred relationship Existential restriction modifier 1
Microcephalus co-occurrent with cervical spine fusion anomaly Finding site True Face structure Inferred relationship Existential restriction modifier 3
16p11.2p12.2 microdeletion syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Combined deficiency of sialidase AND beta galactosidase Finding site True Face structure Inferred relationship Existential restriction modifier 3
Four X syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
X-linked intellectual disability hypotonic face syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Increased lower face height Finding site True Face structure Inferred relationship Existential restriction modifier 1
Decreased lower face height Finding site True Face structure Inferred relationship Existential restriction modifier 1
Angelman syndrome due to maternal monosomy 15q11q13 Finding site True Face structure Inferred relationship Existential restriction modifier 2
2p15p16.1 microdeletion syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Primary leiomyosarcoma of face Finding site False Face structure Inferred relationship Existential restriction modifier 2
N syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Tall stature, intellectual disability, renal anomalies syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 4
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 5
SIX homeobox 2-related frontonasal dysplasia Finding site True Face structure Inferred relationship Existential restriction modifier 2
Camptodactyly syndrome Guadalajara type 3 Finding site True Face structure Inferred relationship Existential restriction modifier 2
Fried syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Finding site True Face structure Inferred relationship Existential restriction modifier 1
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Kosaki overgrowth syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
X-linked intellectual disability with marfanoid habitus Finding site True Face structure Inferred relationship Existential restriction modifier 1
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Oral-facial-digital syndrome with short stature and brachymesophalangia Finding site True Face structure Inferred relationship Existential restriction modifier 4
Primary rhabdomyosarcoma of face Finding site False Face structure Inferred relationship Existential restriction modifier 2
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Gabriele-de Vries syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Mucopolysaccharidosis-like plus disease Finding site True Face structure Inferred relationship Existential restriction modifier 3
Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Witteveen Kolk syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Facial burn pressure therapy mask Has device intended site True Face structure Inferred relationship Existential restriction modifier
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Basel Vanagaite Smirin Yosef syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Hallermann Streiff like syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Sanjad Sakati syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Intellectual disability, expressive aphasia, facial dysmorphism syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Eye defects, arachnodactyly, cardiopathy syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Fryns Smeets Thiry syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Congenital hydrocephalus, low insertion of umbilicus syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Flushing of face caused by spicy food Finding site True Face structure Inferred relationship Existential restriction modifier 3
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 4
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Multiple injuries of face Finding site True Face structure Inferred relationship Existential restriction modifier 1
Facial lymphedema due to acne vulgaris Finding site True Face structure Inferred relationship Existential restriction modifier 1
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Finding site True Face structure Inferred relationship Existential restriction modifier 3
Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 4
Lymphedema of face due to rosacea Finding site True Face structure Inferred relationship Existential restriction modifier 1
Joint contractures, developmental delay, Pierre Robin syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 4
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 4
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Diaphragmatic hernia, short bowel, asplenia syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 5
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Keppen Lubinsky syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Pierpont syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 4
1p35.2 microdeletion syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Xq25 microduplication syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
9q21.13 microdeletion syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Lethal brain and heart developmental defects syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
11q22.2q22.3 microdeletion syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
20q11.2 microdeletion syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 4
8q24.3 microdeletion syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
SIM bHLH transcription factor 1-related Prader-Willi-like syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
MAGE family member L2-related Prader-Willi-like syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 3
Frontorhiny Finding site True Face structure Inferred relationship Existential restriction modifier 2
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 4
Phosphodiesterase 4D haploinsufficiency syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
FG syndrome type 1 Finding site True Face structure Inferred relationship Existential restriction modifier 2
Night blindness, skeletal anomalies, dysmorphism syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 2
Symptomatic form of fragile X syndrome in female carrier Finding site True Face structure Inferred relationship Existential restriction modifier 2
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Finding site True Face structure Inferred relationship Existential restriction modifier 1
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy Finding site True Face structure Inferred relationship Existential restriction modifier 1

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