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89545001: Face structure (body structure)


Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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


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 Some
Face structure Is a Head part false Inferred relationship Some
Face structure Is a Structure of subregion of head true Inferred relationship Some
Face structure Is a Face and/or neck structure true Inferred relationship Some
Face structure Part of Entire head false Additional relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Difficulty maintain elevation of soft palate Finding site True Face structure Inferred relationship Some 698542465
Difficulty moving tongue laterally Finding site True Face structure Inferred relationship Some 1336173342
Unable to perform lip spreading Finding site True Face structure Inferred relationship Some 1797223775
Unable to move tongue symmetrically Finding site True Face structure Inferred relationship Some 144317370
Unable to maintain elevation of soft palate Finding site True Face structure Inferred relationship Some 661549502
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 Finding site True Face structure Inferred relationship Some 2
2p15p16.1 microdeletion syndrome Finding site True Face structure Inferred relationship Some 3
Primary leiomyosarcoma of face Finding site False Face structure Inferred relationship Some 2
N syndrome Finding site True Face structure Inferred relationship Some 1
Drainage of nasal sinus mucocele Procedure site - Indirect False Face structure Inferred relationship Some 1183954829
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome Finding site True Face structure Inferred relationship Some 1
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome Finding site True Face structure Inferred relationship Some 2
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome 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 undermodelling, spondylar dysplasia syndrome 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 ageing, short stature, facial dysmorphism syndrome Finding site True Face structure Inferred relationship Some 5
SIX2-related frontonasal dysplasia Finding site True Face structure Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 3 Finding site True Face structure Inferred relationship Some 2
Fried syndrome Finding site True Face structure Inferred relationship Some 2
Macrothrombocytopenia, lymphoedema, 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 Finding site True Face structure Inferred relationship Some 2
X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome Finding site True Face structure Inferred relationship Some 2
X-linked intellectual disability with marfanoid habitus Finding site True Face structure Inferred relationship Some 1
Joint of face Is a True Face structure Inferred relationship Some
Cross facial nerve graft Procedure site True Face structure Inferred relationship Some 601022697
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 Finding site False Face structure Inferred relationship Some 2
DYRK1A-related intellectual disability syndrome 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 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
WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome 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 Has device intended site True Face structure Inferred relationship Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Finding site True Face structure Inferred relationship Some 2
Basel Vanagaite Smirin Yosef syndrome 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 Finding site True Face structure Inferred relationship Some 1
Steel syndrome Finding site True Face structure Inferred relationship Some 2
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome Finding site True Face structure Inferred relationship Some 2
Intellectual disability, expressive aphasia, facial dysmorphism syndrome 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 site True Face structure Inferred relationship Some 3
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Finding site True Face structure Inferred relationship Some 4
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome 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 lymphoedema 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 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 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 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 Finding site True Face structure Inferred relationship Some 2
Pierpont syndrome 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
TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome Finding site True Face structure Inferred relationship Some 2
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome 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 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 Finding site True Face structure Inferred relationship Some 4
8q24.3 microdeletion syndrome Finding site True Face structure Inferred relationship Some 3
SIM1-related Prader-Willi-like syndrome Finding site True Face structure Inferred relationship Some 1
MAGEL2-related Prader-Willi-like syndrome Finding site True Face structure Inferred relationship Some 1
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome Finding site True Face structure Inferred relationship Some 3
Frontorhiny Finding site True Face structure Inferred relationship Some 2
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome 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 Finding site True Face structure Inferred relationship Some 2
Night blindness, skeletal anomalies, dysmorphism syndrome Finding site True Face structure Inferred relationship Some 2
Symptomatic form of fragile X syndrome in female carrier 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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Reference Sets

ICD-O simple map reference set

Anatomy structure and entire association reference set

Anatomical site reference set

Anatomical location name reference set

Body structure foundation reference set

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