FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
Stickler syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 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 (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Miller syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Trichorhinophalangeal dysplasia type I Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Larsen syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Nager syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Ruvalcaba-Myhre syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Ruvalcaba syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Trichorhinophalangeal dysplasia type III Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mietens syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Otocephalic syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Oto-palato-digital syndrome, type II Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Franceschetti-Klein syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with facial-limb defects as major feature Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Otomandibular dysostosis (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Wildervanck syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Marshall syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Melnick-Fraser syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
First arch syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cranio-orbito-ocular dysraphia syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Oto-palato-digital syndrome, type I Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Langer-Giedion syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Multiple malformation syndrome with facial defects as major feature Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 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 greying 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 (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Grob's syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
syndrome de Cayler Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Frontonasal dysplasia sequence Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Townes syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Robin sequence Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Stickler syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Trichorhinophalangeal dysplasia type I Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Trichorhinophalangeal dysplasia type III Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Oto-palato-digital syndrome, type II Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
Roberts-SC phocomelia syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Melnick-Fraser syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectrodactyly-ectodermal dysplasia-clefting syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Preauricular sinus and fistula Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 7
Larsen syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Nager syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Ruvalcaba-Myhre syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Ruvalcaba syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Mietens syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Multiple malformation syndrome with facial-limb defects as major feature Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Hay-Wells syndrome of ectodermal dysplasia (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Trichorhinophalangeal syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Langer-Giedion syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
syndrome de Cayler Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
FG syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Townes syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Miller syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Oculodento-osseous dysplasia - severe type Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Oculodento-osseous dysplasia - mild type Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
Mohr syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Coffin-Lowry syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Orofacial-digital syndrome IV Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Oral-facial-digital syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Orofacial-digital syndrome III Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Oculodentodigital syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 6
Arteriovenous malformation of face (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Arteriovenous malformation of frontonasal process Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Char syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Blepharophimosis syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Increased posterior face height Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Blister of face with infection Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Abrasion and/or friction burn of face with infection Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Coffin-Lowry syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Blepharophimosis syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
The distance between the angle of the throat and soft tissue menton greater than 51mm+/-6mm. Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Decrease of chin to throat length (finding) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Decreased posterior face height Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Increased lower anterior face height (finding) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Decreased lower anterior face height (finding) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mandibulofacial dysostosis with microcephaly Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Long face height (finding) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Tinea faciei Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Herpes barbae Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Infection of infraorbital space (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Traumatic blister of face, infected Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Infection of face Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Blister of nose with infection (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
McDonough syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Delayed membranous cranial ossification (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Delayed membranous cranial ossification (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Ophthalmomandibulomelic dysplasia Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 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 (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 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 (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 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 (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 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 (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Acromelic frontonasal dysplasia (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 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 (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Crane Heise syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Seaver Cassidy syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Pseudoaminopterin syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
Maxillonasal dysplasia syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 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 (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 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 (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Frontofacionasal dysplasia syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Holoprosencephaly and postaxial polydactyly syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2

Start Previous Page 17 of 25 Next End

Reference Sets

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

Back to Start