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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
148464015 Face en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
111181000087112 face fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
894941000172117 structure faciale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
903661000172119 structure de la face fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
932561000172117 facies fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
941721000172111 figure fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1021171000172115 visage fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
111181000087112 face fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
894941000172117 structure faciale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
903661000172119 structure de la face fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
932561000172117 facies fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
941721000172111 figure fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1021171000172115 visage fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1651 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Face structure (body structure) Is a Face and/or neck structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Face structure (body structure) Is a Head part false Inferred relationship Existential restriction modifier (core metadata concept)
Face structure (body structure) partie de Entire head false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Face structure (body structure) Is a Head region structure true Inferred relationship Existential restriction modifier (core metadata concept)
Face structure (body structure) Is a Face and/or neck structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Holoprosencephaly and postaxial polydactyly syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Goldblatt Wallis syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Fryns macrocephaly Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 6
Mehes syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 10p (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Goldblatt Wallis syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Ichthyosis cheek eyebrow syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephaly with deafness and intellectual disability syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 6
Shprintzen Goldberg omphalocele syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 10
Steinfeld syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Multicentric osteolysis nodulosis arthropathy spectrum Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Brachytelephalangy, facial dysmorphism, Kallmann syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 7
CHIME syndrome is a rare ectodermal dysplasia syndrome characterised by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 6
Syndromic hypoplasia of orbital border (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Koolen De Vries syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Syndromic hypoplasia of orbital border (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 7
Harrod syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Harrod syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 6
A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 6
A very rare syndrome described in three siblings of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit. Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
3C syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 10
3C syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 9
Oro-facial digital syndrome type 9 (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 7
Spondyloepiphyseal dysplasia Cantu type Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
X-linked intellectual disability, Seemanova type is characterized by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked. Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Syndromic X-linked intellectual disability type 11 (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked intellectual disability Siderius type (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked intellectual disability Stevenson type (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked intellectual disability Stoll type (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pallister W syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
14q11.2 microdeletion syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Carpenter Waziri syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked intellectual disability Stevenson type (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
14q11.2 microdeletion syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Short stature Brussels type Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
Smith Fineman Myers syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Shprintzen Goldberg craniosynostosis syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 6
A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 7
Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephalus with brachydactyly and kyphoscoliosis syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 6
Lethal faciocardiomelic dysplasia (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Branchioskeletogenital syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterised by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 6
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
Microcephalus cleft palate syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Cleft palate with short stature and vertebral anomaly syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Pettigrew syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 6
Cleft palate with short stature and vertebral anomaly syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked intellectual disability with plagiocephaly syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 6
8q22.1 microdeletion syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature. Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Renal dysplasia with limb defect syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Ulna fibula ray defect and brachydactyly syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
Xq28-Duplikationssyndrom, proximales Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Tel Hashomer camptodactyly syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
Camptodactyly syndrome Guadalajara type 1 Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 6
Acrofrontofacionasal dysostosis (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
Acrocraniofacial dysostosis (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
Acrocephalopolydactyly (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Acromegaloid facial appearance syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Acro-oto-ocular syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995. Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Bohring Opitz syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Brachytelephalangy, facial dysmorphism, Kallmann syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995. Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Cerebro-facio-thoracic dysplasia (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 6
Brachymorphism with onychodysplasia and dysphalangism syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 11
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 6
Craniosynostosis and intracranial calcification syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 6
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Frank-Ter Haar syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4

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Reference Sets

Anatomy structure and entire association reference set (foundation metadata concept)

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