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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

1358 descendants. Search Descendants:

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 Part of Entire head 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
Severe intellectual disability, progressive spastic diplegia syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) Finding site True Face structure Inferred relationship Some 1
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome Finding site True Face structure Inferred relationship Some 3
Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia Finding site True Face structure Inferred relationship Some 1
Thin ribs, tubular bones, dysmorphism syndrome Finding site True Face structure Inferred relationship Some 2
RIDDLE syndrome Finding site True Face structure Inferred relationship Some 1
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome Finding site True Face structure Inferred relationship Some 2
Herpes barbae (disorder) Finding site True Face structure Inferred relationship Some 1
X-linked intellectual disability due to GRIA3 mutations Finding site True Face structure Inferred relationship Some 1
Melnick-Needles syndrome Finding site True Face structure Inferred relationship Some 2
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) Finding site True Face structure Inferred relationship Some 1
Stimmler syndrome Finding site True Face structure Inferred relationship Some 4
Solitary median maxillary central incisor syndrome Finding site True Face structure Inferred relationship Some 1
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) Finding site True Face structure Inferred relationship Some 3
Aneurysm osteoarthritis syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Finding site True Face structure Inferred relationship Some 4
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
21q22.11q22.12 microdeletion syndrome Finding site True Face structure Inferred relationship Some 3
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) Finding site True Face structure Inferred relationship Some 3
Stickler syndrome type 3 (disorder) Finding site True Face structure Inferred relationship Some 2
Potter's facies Finding site True Face structure Inferred relationship Some 1
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Finding site True Face structure Inferred relationship Some 1
Reunion Island Larsen-like syndrome Finding site False Face structure Inferred relationship Some 2
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) Finding site True Face structure Inferred relationship Some 2
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder) Finding site True Face structure Inferred relationship Some 3
Persistent idiopathic facial pain Finding site True Face structure Inferred relationship Some 3
Arthrogryposis and ectodermal dysplasia syndrome Finding site True Face structure Inferred relationship Some 3
Macrocephaly, intellectual disability, autism syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Oculoauriculofrontonasal syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome Finding site True Face structure Inferred relationship Some 2
Acrofrontofacionasal dysostosis type 2 Finding site True Face structure Inferred relationship Some 2
Femoral hypoplasia - unusual facies syndrome Finding site True Face structure Inferred relationship Some 1
Leprechaunism syndrome Finding site True Face structure Inferred relationship Some 3
Chemical burn of face (disorder) Finding site True Face structure Inferred relationship Some 1
Hennekam lymphangiectasia-lymphedema syndrome (disorder) Finding site True Face structure Inferred relationship Some 3
Desbuquois syndrome Finding site True Face structure Inferred relationship Some 4
Winchester syndrome Finding site True Face structure Inferred relationship Some 2
Williams syndrome Finding site True Face structure Inferred relationship Some 5
Fragile X syndrome Finding site True Face structure Inferred relationship Some 2
Neurofibroma of face (disorder) Finding site True Face structure Inferred relationship Some 1
Angelman syndrome Finding site True Face structure Inferred relationship Some 1
Neu-Laxova syndrome Finding site True Face structure Inferred relationship Some 3
Marshall-Smith syndrome Finding site True Face structure Inferred relationship Some 2
Trichorhinophalangeal syndrome type 1 and 3 Finding site True Face structure Inferred relationship Some 2
Craniofacial deafness hand syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Myhre syndrome Finding site True Face structure Inferred relationship Some 1
Barber-Say syndrome (disorder) Finding site True Face structure Inferred relationship Some 4
Structure of jaw region of face Is a False Face structure Inferred relationship Some
Open wound of jaw with complication Finding site False Face structure Inferred relationship Some 2
Open wound of jaw without complication Finding site False Face structure Inferred relationship Some 2
Finding related to jaw protrusion (finding) Finding site True Face structure Inferred relationship Some 2
Severely limited jaw protrusion (finding) Finding site True Face structure Inferred relationship Some 2
Limited jaw protrusion (finding) Finding site True Face structure Inferred relationship Some 2
Normal jaw protrusion (finding) Finding site True Face structure Inferred relationship Some 2
Microcephalus with albinism and digital anomaly syndrome (disorder) Finding site True Face structure Inferred relationship Some 6
MECP2 duplication syndrome Finding site False Face structure Inferred relationship Some 2
Complex laceration of chin Finding site False Face structure Inferred relationship Some 2
Contaminated complex laceration of chin Finding site False Face structure Inferred relationship Some 2
Chin lift Procedure site True Face structure Inferred relationship Some 3
Pain in chin Finding site False Face structure Inferred relationship Some 2
Gunshot wound of face Finding site True Face structure Inferred relationship Some 1
Oromandibular-limb hypogenesis spectrum Finding site False Face structure Inferred relationship Some 4
Goldenhar syndrome Finding site False Face structure Inferred relationship Some 3
Otomandibular dysostosis Finding site False Face structure Inferred relationship Some 4
Glossopalatine ankylosis (disorder) Finding site False Face structure Inferred relationship Some 5
Acrorenal mandibular syndrome (disorder) Finding site False Face structure Inferred relationship Some 4
Hypomandibular faciocranial dysostosis (disorder) Finding site False Face structure Inferred relationship Some 3
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Finding site False Face structure Inferred relationship Some 4
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Finding site False Face structure Inferred relationship Some 2
Distal limb deficiency with micrognathia syndrome (disorder) Finding site False Face structure Inferred relationship Some 4
Thickened earlobe with conductive deafness syndrome (disorder) Finding site False Face structure Inferred relationship Some 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Finding site False Face structure Inferred relationship Some 5
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Finding site False Face structure Inferred relationship Some 3
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Finding site False Face structure Inferred relationship Some 6
Charlie M syndrome (disorder) Finding site False Face structure Inferred relationship Some 5
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) Finding site False Face structure Inferred relationship Some 5
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Finding site False Face structure Inferred relationship Some 4
Megalencephaly capillary malformation Finding site True Face structure Inferred relationship Some 3
Crush injury of face and scalp Finding site True Face structure Inferred relationship Some 2
14q32 deletion syndrome Finding site True Face structure Inferred relationship Some 3
Autosomal dominant Robinow syndrome (disorder) Finding site True Face structure Inferred relationship Some 5
Autosomal recessive Robinow syndrome Finding site True Face structure Inferred relationship Some 5
Malposition of fetus in face presentation Finding site True Face structure Inferred relationship Some 3
Right mentolateral position Finding site True Face structure Inferred relationship Some 3
Left mentoanterior position Finding site True Face structure Inferred relationship Some 3
Left mentoposterior position Finding site True Face structure Inferred relationship Some 3
Right mentoanterior position Finding site True Face structure Inferred relationship Some 3
Left mentolateral position Finding site True Face structure Inferred relationship Some 3
Right mentoposterior position Finding site True Face structure Inferred relationship Some 3
Mentoanterior position Finding site True Face structure Inferred relationship Some 3
Direct mentoanterior position Finding site True Face structure Inferred relationship Some 3
Mentoposterior position Finding site True Face structure Inferred relationship Some 3
Direct mentoposterior position Finding site True Face structure Inferred relationship Some 3
Mentolateral position Finding site True Face structure Inferred relationship Some 3
de Barsey syndrome Finding site True Face structure Inferred relationship Some 2
Foreign body in skin of face with infection (disorder) Finding site False Face structure Inferred relationship Some 1
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) Finding site True Face structure Inferred relationship Some 5
6q16 microdeletion syndrome Finding site True Face structure Inferred relationship Some 7
Primary leiomyosarcoma of face (disorder) Finding site True Face structure Inferred relationship Some 1
Primary angiosarcoma of face Finding site False 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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