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89545001: Face structure (body structure)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
148464015 Face en Synonym Active Case insensitive SNOMED CT core
508558018 Face structure en Synonym Active Case insensitive SNOMED CT core
832461013 Face structure (body structure) en Fully specified name Active Case insensitive SNOMED CT core

1296 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Face structure Is a Face and/or neck structure false Inferred relationship Some
Face structure Is a Head part false Inferred relationship Some
Face structure Is a Structure of subregion of head true Inferred relationship Some
Face structure Is a Face and/or neck structure true Inferred relationship Some
Face structure Part of Entire head false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Malignant hyperthermia with arthrogryposis and torticollis syndrome Finding site True Face structure Inferred relationship Some 1
Xylosyltransferase 1 congenital disorder of glycosylation Finding site True Face structure Inferred relationship Some 1
Intellectual disability, facial dysmorphism, hand anomalies syndrome Finding site True Face structure Inferred relationship Some 1
Roifman syndrome Finding site True Face structure Inferred relationship Some 2
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome Finding site True Face structure Inferred relationship Some 1
9q31.1q31.3 microdeletion syndrome Finding site True Face structure Inferred relationship Some 1
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Finding site True Face structure Inferred relationship Some 2
13q12.3 microdeletion syndrome Finding site True Face structure Inferred relationship Some 1
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Finding site True Face structure Inferred relationship Some 1
14q24.1q24.3 microdeletion syndrome Finding site True Face structure Inferred relationship Some 2
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Finding site True Face structure Inferred relationship Some 2
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Finding site True Face structure Inferred relationship Some 2
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome Finding site True Face structure Inferred relationship Some 1
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome Finding site True Face structure Inferred relationship Some 1
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Finding site True Face structure Inferred relationship Some 3
Robinow syndrome Finding site True Face structure Inferred relationship Some 2
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome Finding site True Face structure Inferred relationship Some 1
Craniofacial dysplasia osteopenia syndrome Finding site True Face structure Inferred relationship Some 1
Flat face, microstomia, ear anomaly syndrome Finding site True Face structure Inferred relationship Some 1
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Finding site True Face structure Inferred relationship Some 3
Pitt Hopkins-like syndrome Finding site False Face structure Inferred relationship Some 1
Emery Nelson syndrome Finding site True Face structure Inferred relationship Some 2
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome Finding site True Face structure Inferred relationship Some 2
AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome Finding site True Face structure Inferred relationship Some 2
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Finding site True Face structure Inferred relationship Some 1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Finding site True Face structure Inferred relationship Some 3
Progeroid and marfanoid aspect, lipodystrophy syndrome Finding site True Face structure Inferred relationship Some 3
Intellectual disability, severe speech delay, mild dysmorphism syndrome Finding site True Face structure Inferred relationship Some 1
Needle stick injury of cheek Finding site False Face structure Inferred relationship Some 2
Needle stick injury of nose Finding site False Face structure Inferred relationship Some 2
Crush injury, face NOS Finding site False Face structure Inferred relationship Some 1
Other face injuries Finding site False Face structure Inferred relationship Some 1
Temple syndrome Finding site True Face structure Inferred relationship Some 1
Syndromic multisystem autoimmune disease due to ITCH deficiency Finding site True Face structure Inferred relationship Some 1
Lethal polymalformative syndrome Boissel type Finding site True Face structure Inferred relationship Some 1
Non-surgical biopsy face NOS Procedure site False Face structure Inferred relationship Some 1
Facial profile finding Finding site True Face structure Inferred relationship Some 2
Complexion finding Finding site False Face structure Inferred relationship Some
Facial appearance finding Finding site True Face structure Inferred relationship Some 2
Maxillofacial bone structure Is a False Face structure Inferred relationship Some
Marfanoid habitus, inguinal hernia, advanced bone age syndrome Finding site True Face structure Inferred relationship Some 3
Severe intellectual disability, progressive spastic diplegia syndrome Finding site True Face structure Inferred relationship Some 1
Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency 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 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 Finding site True Face structure Inferred relationship Some 1
Developmental delay, facial dysmorphism syndrome due to MED13L deficiency 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
Pfeiffer Palm Teller syndrome Finding site True Face structure Inferred relationship Some 3
Aneurysm osteoarthritis syndrome Finding site True Face structure Inferred relationship Some 2
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome Finding site True Face structure Inferred relationship Some 4
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome 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 tumour syndrome Finding site True Face structure Inferred relationship Some 3
Stickler syndrome type 3 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, behavioural abnormalities syndrome due to 10p11.21p12.31 microdeletion Finding site True Face structure Inferred relationship Some 2
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion 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 Finding site True Face structure Inferred relationship Some 2
Oculoauriculofrontonasal syndrome 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
Difficulty performing oral motor functions Finding site False Face structure Inferred relationship Some
Orofacial dysfunction Finding site False Face structure Inferred relationship Some
Unable to perform oral motor functions Finding site False Face structure Inferred relationship Some
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 Finding site True Face structure Inferred relationship Some 1
Hennekam syndrome 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 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 Finding site True Face structure Inferred relationship Some 2
Myhre syndrome Finding site True Face structure Inferred relationship Some 1
Barber-Say syndrome 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 site True Face structure Inferred relationship Some 2
Severely limited jaw protrusion Finding site True Face structure Inferred relationship Some 2
Limited jaw protrusion Finding site True Face structure Inferred relationship Some 2
Normal jaw protrusion Finding site True Face structure Inferred relationship Some 2
Microcephaly with albinism and digital anomaly syndrome Finding site True Face structure Inferred relationship Some 6
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome Finding site True Face structure Inferred relationship Some 2

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Reference Sets

ICD-O simple map reference set

Anatomy structure and entire association reference set

Anatomical site reference set

Anatomical location name reference set

Body structure foundation reference set

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