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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
Severe intellectual disability, progressive spastic diplegia syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic polymalformative syndrome with increased risk of developing cancer, with characteristics of a Noonan-like phenotype, including typical dysmorphic facial features (such as high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent occurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity and hypotonia may also be associated. Caused by heterozygous mutation in the CBL gene. Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Thin ribs, tubular bones, dysmorphism syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
RIDDLE syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia and cleft palate. The syndrome is associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992. Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Herpes barbae Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked intellectual disability due to GRIA3 mutations Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Melnick-Needles syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Solitary median maxillary central incisor syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Aneurysm osteoarthritis syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
21q22.11q22.12 microdeletion syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Stickler syndrome type 3 (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Potter's facies Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Reunion Island Larsen-like syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare syndromic intellectual disability with characteristics of global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioural issues, stereotypic behaviour, febrile seizures and epilepsy, abnormal gait, vision defects and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present. Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Persistent idiopathic facial pain Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Macrocephaly, intellectual disability, autism syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare dysostosis syndrome with characteristics of vertical median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations. The syndrome manifests with highly variable craniofacial features which include hypertelorism, eyelid coloboma, orbital dystopia, epibulbar dermoid, nasal anomalies (for example wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated. Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Acrofrontofacionasal dysostosis type 2 Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Femoral hypoplasia - unusual facies syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Leprechaunism syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Chemical burn of face (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Hennekam lymphangiectasia-lymphoedema syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Desbuquois syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Winchester syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Williams syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
Fragile X syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Neurofibroma of face Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Angelman syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Neu-Laxova syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Marshall-Smith syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Trichorhinophalangeal syndrome type 1 and 3 Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Craniofacial deafness hand syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Myhre syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Barber-Say syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Structure of jaw region of face Is a False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept)
Open wound of jaw with complication Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
plaie ouverte de la mâchoire Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Finding related to jaw protrusion Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Severely limited jaw protrusion (finding) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Limited jaw protrusion Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Normal jaw protrusion (finding) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 6
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Complex laceration of chin Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Contaminated complex laceration of chin Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Chin lift Procedure site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Pain in chin Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Gunshot wound of face Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Goldenhar syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Otomandibular dysostosis (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Glossopalatine ankylosis (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
Acrorenal mandibular syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Hypomandibular faciocranial dysostosis is a cranial malformation characterised by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis. Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterised by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal limb deficiency with micrognathia syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Thickened earlobe with conductive deafness syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 6
Charlie M syndrome (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
Mandibular hypoplasia, deafness, progeroid syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
Megalencephaly capillary malformation Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Crush injury of face and scalp Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
14q32 deletion syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant Robinow syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal recessive Robinow syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
Malposition of fetus in face presentation Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Right mentolateral position Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Left mentoanterior position Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Left mentoposterior position Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Right mentoanterior position Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Left mentolateral position Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Right mentoposterior position Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Mentoanterior position Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Direct mentoanterior position Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Mentoposterior position Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Direct mentoposterior position Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Mentolateral position Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
de Barsey syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Superficial foreign body of face with infection Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
6q16 microdeletion syndrome Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 7
Primary leiomyosarcoma of face Finding site True Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary angiosarcoma of face (disorder) Finding site False Face structure (body structure) Inferred relationship Existential restriction modifier (core metadata concept) 2

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Reference Sets

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

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