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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
Familial omphalocele syndrome with facial dysmorphism (disorder) Finding site True Face structure Inferred relationship Some 2
Open wound of face due to dog bite Finding site True Face structure Inferred relationship Some 1
11p15.4 microduplication syndrome (disorder) Finding site True Face structure Inferred relationship Some 3
Autism spectrum disorder due to AUTS2 deficiency Finding site True Face structure Inferred relationship Some 1
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Finding site True Face structure Inferred relationship Some 1
Oculodentodigital syndrome (disorder) Finding site True Face structure Inferred relationship Some 3
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Finding site True Face structure Inferred relationship Some 3
Fine Lubinsky syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Opodidymus Finding site True Face structure Inferred relationship Some 1
Arteriovenous malformation of face (disorder) Finding site False Face structure Inferred relationship Some 1
Carpenter Waziri syndrome Finding site False Face structure Inferred relationship Some 1
Hall Riggs syndrome (disorder) Finding site True Face structure Inferred relationship Some 3
Cephalodiprosopus Finding site True Face structure Inferred relationship Some 1
Shprintzen Goldberg craniosynostosis syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Lymphedema, atrial septal defect, facial changes syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Mohr syndrome Finding site True Face structure Inferred relationship Some 2
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Oro-facial digital syndrome type 5 (disorder) Finding site True Face structure Inferred relationship Some 2
Janiceps Finding site True Face structure Inferred relationship Some 1
Keutel syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Multicentric osteolysis nodulosis arthropathy spectrum (disorder) Finding site True Face structure Inferred relationship Some 2
Pseudoaminopterin syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Weissenbacher-Zweymuller syndrome Finding site False Face structure Inferred relationship Some 1
Shprintzen Goldberg omphalocele syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Pierre Robin sequence faciodigital anomaly syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Crisponi syndrome (disorder) Finding site True Face structure Inferred relationship Some 3
Roberts-SC phocomelia syndrome Finding site True Face structure Inferred relationship Some 1
Ichthyosis, oral and digital anomalies syndrome Finding site True Face structure Inferred relationship Some 2
German syndrome (disorder) Finding site True Face structure Inferred relationship Some 3
Acrofrontofacionasal dysostosis (disorder) Finding site True Face structure Inferred relationship Some 2
Acrootoocular syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Dysmorphism, short stature, deafness, disorder of sex development syndrome Finding site True Face structure Inferred relationship Some 1
Spinocerebellar ataxia dysmorphism syndrome Finding site True Face structure Inferred relationship Some 2
Faciocardiorenal syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Steinfeld syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Crouzon syndrome with acanthosis nigricans (disorder) Finding site True Face structure Inferred relationship Some 2
Oro-facial digital syndrome type 9 (disorder) Finding site True Face structure Inferred relationship Some 3
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Wilson Turner syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Ophthalmomandibulomelic dysplasia (disorder) Finding site True Face structure Inferred relationship Some 2
Orofacial-digital syndrome III Finding site True Face structure Inferred relationship Some 2
Trichorhinophalangeal syndrome Finding site True Face structure Inferred relationship Some 1
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder) Finding site True Face structure Inferred relationship Some 3
Diprosopus tetrophthalmus Finding site True Face structure Inferred relationship Some 1
Autosomal recessive distal osteolysis syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Orofacial-digital syndrome IV Finding site True Face structure Inferred relationship Some 2
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Diprosopus Finding site True Face structure Inferred relationship Some 1
Seaver Cassidy syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Microlissencephaly micromelia syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Acrocephalopolydactyly (disorder) Finding site True Face structure Inferred relationship Some 1
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Finding site True Face structure Inferred relationship Some 1
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Oro-facial digital syndrome type 10 (disorder) Finding site True Face structure Inferred relationship Some 2
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) Finding site True Face structure Inferred relationship Some 3
Jawad syndrome Finding site True Face structure Inferred relationship Some 4
Ramos Arroyo syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Trisomy 10p (disorder) Finding site True Face structure Inferred relationship Some 2
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Macrocephaly, short stature, paraplegia syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Anophthalmia plus syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Microcephaly with deafness and intellectual disability syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Okamoto syndrome Finding site False Face structure Inferred relationship Some 3
Marfanoid habitus with autosomal recessive intellectual disability syndrome Finding site True Face structure Inferred relationship Some 1
Deafness and intellectual disability Martin Probst type syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Deafness craniofacial syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Acrocallosal syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Noonan syndrome-like disorder with loose anagen hair (disorder) Finding site True Face structure Inferred relationship Some 2
Arteriovenous malformation of frontonasal process Finding site False Face structure Inferred relationship Some 2
Juberg Hayward syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Oro-facial digital syndrome type 11 (disorder) Finding site True Face structure Inferred relationship Some 3
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) Finding site True Face structure Inferred relationship Some 5
Oro-facial digital syndrome type 8 (disorder) Finding site True Face structure Inferred relationship Some 2
Polyvalvular heart disease syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Joubert syndrome with orofaciodigital defect (disorder) Finding site True Face structure Inferred relationship Some 3
Cerebro-facio-thoracic dysplasia (disorder) Finding site True Face structure Inferred relationship Some 1
Frontofacionasal dysplasia syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Ulna fibula ray defect and brachydactyly syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) Finding site True Face structure Inferred relationship Some 4
Smith Fineman Myers syndrome Finding site False Face structure Inferred relationship Some 1
Hemifacial hyperplasia strabismus syndrome Finding site True Face structure Inferred relationship Some 1
Acrocraniofacial dysostosis (disorder) Finding site True Face structure Inferred relationship Some 2
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Acromegaloid facial appearance syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Craniosynostosis and intracranial calcification syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Short stature Brussels type (disorder) Finding site True Face structure Inferred relationship Some 1
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Finding site True Face structure Inferred relationship Some 3
Jawad syndrome Finding site False Face structure Inferred relationship Some 3

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