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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
148465019 Face, NOS en Synonym (core metadata concept) Inactive 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 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
Holoprosencephaly and postaxial polydactyly syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Finding site False Face structure Inferred relationship Some 3
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder) Finding site False Face structure Inferred relationship Some 6
Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) Finding site False Face structure Inferred relationship Some 5
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Trisomy 17p (disorder) Finding site True Face structure Inferred relationship Some 2
Trisomy 10p (disorder) Finding site False Face structure Inferred relationship Some 5
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) Finding site False Face structure Inferred relationship Some 4
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Finding site True Face structure Inferred relationship Some 2
Ichthyosis cheek eyebrow syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Microcephaly with deafness and intellectual disability syndrome (disorder) Finding site False Face structure Inferred relationship Some 6
Shprintzen Goldberg omphalocele syndrome (disorder) Finding site False Face structure Inferred relationship Some 10
Steinfeld syndrome (disorder) Finding site False Face structure Inferred relationship Some 2
Trisomy 17p (disorder) Finding site False Face structure Inferred relationship Some 3
Multicentric osteolysis nodulosis arthropathy spectrum (disorder) Finding site False Face structure Inferred relationship Some 3
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Finding site False Face structure Inferred relationship Some 3
Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Finding site False Face structure Inferred relationship Some 7
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) Finding site False Face structure Inferred relationship Some 6
Syndromic hypoplasia of orbital border (disorder) Finding site True Face structure Inferred relationship Some 2
Koolen De Vries syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Syndromic hypoplasia of orbital border (disorder) Finding site False Face structure Inferred relationship Some 3
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Finding site False Face structure Inferred relationship Some 7
Harrod syndrome Finding site True Face structure Inferred relationship Some 4
Harrod syndrome Finding site False Face structure Inferred relationship Some 6
Wolf Hirschhorn syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Finding site True Face structure Inferred relationship Some 4
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Finding site False Face structure Inferred relationship Some 6
Sonoda syndrome Finding site True Face structure Inferred relationship Some 2
3C syndrome Finding site True Face structure Inferred relationship Some 4
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Finding site False Face structure Inferred relationship Some 10
3C syndrome Finding site False Face structure Inferred relationship Some 5
Oro-facial digital syndrome type 11 (disorder) Finding site False Face structure Inferred relationship Some 9
Oro-facial digital syndrome type 9 (disorder) Finding site False Face structure Inferred relationship Some 7
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) Finding site False Face structure Inferred relationship Some 5
X-linked intellectual disability Seemanova type (disorder) Finding site True Face structure Inferred relationship Some 1
Syndromic X-linked intellectual disability type 11 (disorder) Finding site True Face structure Inferred relationship Some 1
X-linked intellectual disability Siderius type (disorder) Finding site True Face structure Inferred relationship Some 1
X-linked intellectual disability Stevenson type (disorder) Finding site False Face structure Inferred relationship Some 3
X-linked intellectual disability Stoll type (disorder) Finding site True Face structure Inferred relationship Some 1
Pallister W syndrome (disorder) Finding site True Face structure Inferred relationship Some 1
14q11.2 microdeletion syndrome (disorder) Finding site True Face structure Inferred relationship Some 3
Carpenter Waziri syndrome Finding site False Face structure Inferred relationship Some 3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
X-linked intellectual disability Stevenson type (disorder) Finding site True Face structure Inferred relationship Some 2
14q11.2 microdeletion syndrome (disorder) Finding site False Face structure Inferred relationship Some 5
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism 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 False Face structure Inferred relationship Some 3
Short stature Brussels type (disorder) Finding site False Face structure Inferred relationship Some 3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Finding site False Face structure Inferred relationship Some 3
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) Finding site False Face structure Inferred relationship Some 3
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) Finding site False Face structure Inferred relationship Some 5
Smith Fineman Myers syndrome Finding site False Face structure Inferred relationship Some 3
Shprintzen Goldberg craniosynostosis syndrome (disorder) Finding site False Face structure Inferred relationship Some 6
Pyknoachondrogenesis (disorder) Finding site False Face structure Inferred relationship Some 7
Pelviscapular dysplasia Finding site True Face structure Inferred relationship Some 2
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) Finding site False Face structure Inferred relationship Some 6
Lethal faciocardiomelic dysplasia (disorder) Finding site False Face structure Inferred relationship Some 3
BSG syndrome Finding site False Face structure Inferred relationship Some 4
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Finding site False Face structure Inferred relationship Some 3
Hadziselimovic syndrome Finding site False Face structure Inferred relationship Some 6
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) Finding site False Face structure Inferred relationship Some 5
Microcephalus cleft palate syndrome (disorder) Finding site True Face structure Inferred relationship Some 3
Cleft palate with short stature and vertebral anomaly syndrome (disorder) Finding site False Face structure Inferred relationship Some 4
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Finding site False Face structure Inferred relationship Some 6
Cleft palate with short stature and vertebral anomaly syndrome (disorder) Finding site True Face structure Inferred relationship Some 3
Gingival fibromatosis with facial dysmorphism syndrome (disorder) Finding site False Face structure Inferred relationship Some 2
X-linked intellectual disability with plagiocephaly syndrome (disorder) Finding site False Face structure Inferred relationship Some 4
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder) Finding site False Face structure Inferred relationship Some 6
8q22.1 microdeletion syndrome (disorder) Finding site True Face structure Inferred relationship Some 3
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) Finding site False Face structure Inferred relationship Some 4
Wilson Turner syndrome (disorder) Finding site False Face structure Inferred relationship Some 2
Renal dysplasia with limb defect syndrome (disorder) Finding site False Face structure Inferred relationship Some 5
Van den Ende-Gupta syndrome (disorder) Finding site False Face structure Inferred relationship Some 3
Ulna fibula ray defect and brachydactyly syndrome (disorder) Finding site False Face structure Inferred relationship Some 5
Chromosome Xq28 trisomy Finding site False Face structure Inferred relationship Some 3
Tel Hashomer camptodactyly syndrome (disorder) Finding site False Face structure Inferred relationship Some 5
Camptodactyly syndrome Guadalajara type 1 (disorder) Finding site False Face structure Inferred relationship Some 6
Acrofrontofacionasal dysostosis (disorder) Finding site False Face structure Inferred relationship Some 5
Acrocraniofacial dysostosis (disorder) Finding site False Face structure Inferred relationship Some 5
Acrocephalopolydactyly (disorder) Finding site False Face structure Inferred relationship Some 3
Acromegaloid facial appearance syndrome (disorder) Finding site False Face structure Inferred relationship Some 2
Acrootoocular syndrome (disorder) Finding site False Face structure Inferred relationship Some 3
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder) Finding site True Face structure Inferred relationship Some 2
Bohring Opitz syndrome (disorder) Finding site False Face structure Inferred relationship Some 3
Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder) Finding site False Face structure Inferred relationship Some 3
Anophthalmia plus syndrome (disorder) Finding site False Face structure Inferred relationship Some 2
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder) Finding site False Face structure Inferred relationship Some 3
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder) Finding site False Face structure Inferred relationship Some 3
Cerebro-facio-thoracic dysplasia (disorder) Finding site False Face structure Inferred relationship Some 3
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Finding site False Face structure Inferred relationship Some 6
Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) Finding site False Face structure Inferred relationship Some 5
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Finding site False Face structure Inferred relationship Some 11
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Finding site False Face structure Inferred relationship Some 6
Craniosynostosis and intracranial calcification syndrome (disorder) Finding site False Face structure Inferred relationship Some 6
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder) Finding site False Face structure Inferred relationship Some 3
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Finding site False Face structure Inferred relationship Some 3
Frank-Ter Haar syndrome (disorder) Finding site False Face structure Inferred relationship Some 5
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) Finding site False Face structure Inferred relationship Some 4

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Reference Sets

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