89545001: Face structure (body structure)

SNOMED CT Concept\Body structure\Anatomical or acquired body structure (body structure)\Anatomical structure\Body region structure\Body part structure\Upper body structure\Upper body part structure\Structure of head and/or neck (body structure)\...

\Face and/or neck structure (body structure)\Face structure

\Head structure\Head part\Structure of subregion of head\Face structure

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

Descriptions:

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	del af	Entire head (body structure)	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
Stickler syndrome	Finding site	False	Face structure	Inferred relationship	Some	6
A congenital disorder of craniofacial development with characteristics of bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1) or POLR1D (13q12.2) genes, coding for RNA polymerase I and III subunits. Transmission is autosomal dominant with 90% penetrance and variable expressivity, even among affected patients within the same family. Mutations in POLR1C gene are inherited in autosomal recessive manner.	Finding site	True	Face structure	Inferred relationship	Some	1
Miller syndrome	Finding site	True	Face structure	Inferred relationship	Some	3
Trichorhinophalangeal dysplasia type I	Finding site	True	Face structure	Inferred relationship	Some	2
Larsen syndrome	Finding site	False	Face structure	Inferred relationship	Some	4
Nager syndrome	Finding site	True	Face structure	Inferred relationship	Some	2
Ruvalcaba-Myhres syndrom	Finding site	False	Face structure	Inferred relationship	Some	2
Ruvalcaba syndrome	Finding site	True	Face structure	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type III (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
Mietens syndrome	Finding site	True	Face structure	Inferred relationship	Some	2
Otocephalic syndrome	Finding site	True	Face structure	Inferred relationship	Some	1
A severe form of otopalatodigital syndrome spectrum disorder with characteristics of dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system and intestine) and poor survival. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation are less severely affected.	Finding site	False	Face structure	Inferred relationship	Some	4
Franceschetti-Kleins syndrom	Finding site	False	Face structure	Inferred relationship	Some	1
Multiple malformation syndrome with facial-limb defects as major feature	Finding site	True	Face structure	Inferred relationship	Some	2
Otomandibular dysostosis	Finding site	False	Face structure	Inferred relationship	Some	3
Wildervanck syndrome	Finding site	False	Face structure	Inferred relationship	Some	1
Marshall syndrome	Finding site	True	Face structure	Inferred relationship	Some	3
Melnick-Fraser syndrome	Finding site	False	Face structure	Inferred relationship	Some	3
First arch syndrome	Finding site	True	Face structure	Inferred relationship	Some	1
Kranio-orbito-okulært dysrafisyndrom	Finding site	False	Face structure	Inferred relationship	Some	1
The mildest form of otopalatodigital syndrome spectrum disorder, characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation have a broad range of phenotypic expression.	Finding site	True	Face structure	Inferred relationship	Some	4
Langer-Giedion syndrome	Finding site	False	Face structure	Inferred relationship	Some	3
Multiple malformation syndrome with facial defects as major feature	Finding site	True	Face structure	Inferred relationship	Some	1
Disorder with characteristics of varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. Clinical manifestations vary within and between families. Frequent clinical manifestations include congenital sensorineural deafness, heterochromic or hypoplastic blue irides, white forelock or early graying of the scalp hair before the age of 30 years. The disease is genetically heterogeneous. To date, mutations in 6 different genes have been identified: PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32).	Finding site	False	Face structure	Inferred relationship	Some	1
Grob's syndrome	Finding site	True	Face structure	Inferred relationship	Some	1
Caylers kardiofaciale syndrom	Finding site	False	Face structure	Inferred relationship	Some	1
Frontonasal dysplasia sequence	Finding site	True	Face structure	Inferred relationship	Some	2
Townes syndrome	Finding site	True	Face structure	Inferred relationship	Some	2
Robin sequence	Finding site	True	Face structure	Inferred relationship	Some	1
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)	Finding site	False	Face structure	Inferred relationship	Some	2
Stickler syndrome	Finding site	False	Face structure	Inferred relationship	Some	4
Trichorhinophalangeal dysplasia type I	Finding site	False	Face structure	Inferred relationship	Some	3
Trichorhinophalangeal dysplasia type III (disorder)	Finding site	False	Face structure	Inferred relationship	Some	3
A severe form of otopalatodigital syndrome spectrum disorder with characteristics of dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system and intestine) and poor survival. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation are less severely affected.	Finding site	True	Face structure	Inferred relationship	Some	5
Roberts-SC phocomelia syndrome	Finding site	False	Face structure	Inferred relationship	Some	3
Melnick-Fraser syndrome	Finding site	True	Face structure	Inferred relationship	Some	2
Ectrodactyly-ectodermal dysplasia-clefting syndrome	Finding site	True	Face structure	Inferred relationship	Some	4
Præaurikulær sinus og fistel	Finding site	False	Face structure	Inferred relationship	Some	7
Larsen syndrome	Finding site	True	Face structure	Inferred relationship	Some	3
Nager syndrome	Finding site	False	Face structure	Inferred relationship	Some	3
Ruvalcaba-Myhres syndrom	Finding site	False	Face structure	Inferred relationship	Some	3
Ruvalcaba syndrome	Finding site	False	Face structure	Inferred relationship	Some	3
Mietens syndrome	Finding site	False	Face structure	Inferred relationship	Some	3
Multiple malformation syndrome with facial-limb defects as major feature	Finding site	False	Face structure	Inferred relationship	Some	3
Hay-Wells syndrome of ectodermal dysplasia	Finding site	True	Face structure	Inferred relationship	Some	4
Trichorhinophalangeal syndrome	Finding site	False	Face structure	Inferred relationship	Some	3
Langer-Giedion syndrome	Finding site	True	Face structure	Inferred relationship	Some	2
Caylers kardiofaciale syndrom	Finding site	False	Face structure	Inferred relationship	Some	2
FG syndrome	Finding site	False	Face structure	Inferred relationship	Some	3
Townes syndrome	Finding site	False	Face structure	Inferred relationship	Some	3
Miller syndrome	Finding site	False	Face structure	Inferred relationship	Some	4
Oculodento-osseous dysplasia - severe type	Finding site	False	Face structure	Inferred relationship	Some	5
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
Oculodento-osseous dysplasia - mild type	Finding site	False	Face structure	Inferred relationship	Some	5
Mohr syndrome	Finding site	False	Face structure	Inferred relationship	Some	3
A rare X-linked syndromic intellectual disability with characteristics of global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Severe clinical presentation was reported in the first male patients described. Following the wide application of molecular genetic testing, the phenotype is now recognized as very variable. Caused by pathogenic variations in the RPS6KA3 gene (Xp22.2-p22.1), which encodes ribosomal protein S6 kinase alpha-3, a growth-factor-regulated protein kinase. An X-linked dominant disorder, about two-thirds of cases occur de novo. Male offspring inheriting the mutation are affected and female carriers can be unaffected or show milder phenotypes.	Finding site	False	Face structure	Inferred relationship	Some	4
Orofacial-digital syndrome IV	Finding site	False	Face structure	Inferred relationship	Some	3
Oral-facial-digital syndrome	Finding site	False	Face structure	Inferred relationship	Some	3
Orofacial-digital syndrome III	Finding site	False	Face structure	Inferred relationship	Some	3
Oculodentodigital syndrome	Finding site	False	Face structure	Inferred relationship	Some	6
Arteriovenous malformation of face (disorder)	Finding site	False	Face structure	Inferred relationship	Some	2
Arteriovenous malformation of frontonasal process	Finding site	False	Face structure	Inferred relationship	Some	3
Char syndrome	Finding site	True	Face structure	Inferred relationship	Some	1
Blefarofimosesyndrom	Finding site	False	Face structure	Inferred relationship	Some	1
Increased posterior face height	Finding site	True	Face structure	Inferred relationship	Some	2
Blister of face with infection	Finding site	False	Face structure	Inferred relationship	Some	4
Abrasion and/or friction burn of face with infection	Finding site	True	Face structure	Inferred relationship	Some	2
A rare X-linked syndromic intellectual disability with characteristics of global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Severe clinical presentation was reported in the first male patients described. Following the wide application of molecular genetic testing, the phenotype is now recognized as very variable. Caused by pathogenic variations in the RPS6KA3 gene (Xp22.2-p22.1), which encodes ribosomal protein S6 kinase alpha-3, a growth-factor-regulated protein kinase. An X-linked dominant disorder, about two-thirds of cases occur de novo. Male offspring inheriting the mutation are affected and female carriers can be unaffected or show milder phenotypes.	Finding site	True	Face structure	Inferred relationship	Some	3
Blefarofimosesyndrom	Finding site	False	Face structure	Inferred relationship	Some	2
The distance between the angle of the throat and soft tissue menton greater than 51mm+/-6mm.	Finding site	True	Face structure	Inferred relationship	Some	1
The distance between the angle of the throat and soft tissue menton less than 51mm+/-6mm.	Finding site	True	Face structure	Inferred relationship	Some	1
Decreased posterior face height (finding)	Finding site	True	Face structure	Inferred relationship	Some	2
Increased lower anterior face height (finding)	Finding site	True	Face structure	Inferred relationship	Some	2
Decreased lower anterior face height	Finding site	True	Face structure	Inferred relationship	Some	2
Mandibulofacial dysostosis with microcephaly	Finding site	True	Face structure	Inferred relationship	Some	1
Long face height (finding)	Finding site	True	Face structure	Inferred relationship	Some	1
Tinea faciei	Finding site	False	Face structure	Inferred relationship	Some	2
Herpes barbae (disorder)	Finding site	False	Face structure	Inferred relationship	Some	2
Infection of infraorbital space	Finding site	False	Face structure	Inferred relationship	Some	3
Traumatic blister of face, infected	Finding site	False	Face structure	Inferred relationship	Some	3
Infection of face	Finding site	True	Face structure	Inferred relationship	Some	2
Blister of nose with infection	Finding site	False	Face structure	Inferred relationship	Some	4
McDonough syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. There have been no further descriptions in the literature since 1984.	Finding site	True	Face structure	Inferred relationship	Some	1
Delayed membranous cranial ossification (disorder)	Finding site	False	Face structure	Inferred relationship	Some	3
Delayed membranous cranial ossification (disorder)	Finding site	True	Face structure	Inferred relationship	Some	2
Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.	Finding site	False	Face structure	Inferred relationship	Some	3
A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability.	Finding site	False	Face structure	Inferred relationship	Some	5
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).	Finding site	False	Face structure	Inferred relationship	Some	8
An early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.	Finding site	False	Face structure	Inferred relationship	Some	4
A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet.	Finding site	True	Face structure	Inferred relationship	Some	1
A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.	Finding site	True	Face structure	Inferred relationship	Some	1
Deafness-craniofacial syndrome is characterized by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.	Finding site	False	Face structure	Inferred relationship	Some	4
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.	Finding site	True	Face structure	Inferred relationship	Some	3
Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterized by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.	Finding site	False	Face structure	Inferred relationship	Some	3
Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.	Finding site	False	Face structure	Inferred relationship	Some	5
A rare developmental anomaly characterized by midfacial hypoplasia affecting primarily the anterior part of the maxilla (premaxilla) and the nasal complex.	Finding site	True	Face structure	Inferred relationship	Some	1
Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.	Finding site	True	Face structure	Inferred relationship	Some	2
Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.	Finding site	False	Face structure	Inferred relationship	Some	3
A rare genetic disease characterized by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association.	Finding site	False	Face structure	Inferred relationship	Some	2
A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed.	Finding site	True	Face structure	Inferred relationship	Some	3
Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13.	Finding site	True	Face structure	Inferred relationship	Some	2

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Reference Sets

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

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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
2846241000005113	Ansigtsstruktur	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)