398302004: Congenital anomaly of face (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of face (disorder)	Is a	Congenital anomaly of head	true	Inferred relationship	Some
Congenital anomaly of face (disorder)	Is a	Ear, face and neck congenital anomalies	false	Inferred relationship	Some
Congenital anomaly of face (disorder)	Is a	Disorder of face (disorder)	true	Inferred relationship	Some
Congenital anomaly of face (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of face (disorder)	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of face (disorder)	Finding site	Face structure	false	Inferred relationship	Some	1
Congenital anomaly of face (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Congenital anomaly of face (disorder)	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of face (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of face (disorder)	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Congenital anomaly of face (disorder)	Finding site	Face structure	false	Inferred relationship	Some	2
Congenital anomaly of face (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of face (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital anomaly of face (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Internasal dysostosis	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Kohlschutter's syndrome	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Macrogenia	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital anomaly of lip	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Cerebrofacial dysplasia	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital anosmia	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital absence of nose	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital distichiasis	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital abnormality of oral cavity	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Facial asymmetry	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital anomaly of face bones	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Gingival cyst of newborn	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital atresia of nares	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Periodontal Ehlers-Danlos syndrome (disorder)	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
kerubisme	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Nasal glial heterotopia	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Increased superior-inferior overlap of the maxillary central incisors over the mandibular central incisors relative to the incisal ridges.	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital absence of eyelash	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Nasal encephalocele	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Horizontal overbite	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Syphilitic saddle nose	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Distichiasis	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital anomaly of jaw	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Ectopic cilia of eyelid	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Fistula of congenital auricle	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Deformity of nasal sinus wall	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital perforation of the nasal sinus wall	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital deformity of face (disorder)	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Præaurikulær sinus	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Preauricular fistula	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Mandibuloacral dysostosis	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Buccal bifurcation cyst	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Saddelnæse	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital anomaly of nose	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital anomaly of nasal sinuses	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Microstomia	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital macrostomia	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Kongenit anomali i tænder	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenitally short snout	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Disease with characteristics of craniosynostosis and facial hypoplasia. Craniosynostosis is variable but many sutures are usually involved. Facial anomalies include ocular hypertelorism, small beaked nose, proptosis, exophthalmos, hypoplastic maxilla and mandibular prognathism. Caused by mutations of the fibroblast growth factor receptor FGFR2 (10q25.3-q26) with 80% being located to the immunoglobulin (Ig)-like domain III (IgIII domain) of the extracellular region and an additional 20% of mutations being located in the IgI-IgII domains, transmembrane and tyrosine kinase regions. The disease is transmitted in an autosomal dominant manner with variable penetrance.	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital absence of chin	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital malformation of the eyebrow (disorder)	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital structural abnormality of eyelid	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Weissenbacher-Zweymuller syndrome	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Potter's facies	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Macrogenia	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Ear, face and neck congenital anomalies	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Fordyce spots of buccal mucosa (disorder)	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Multiple malformation syndrome with facial defects as major feature	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Arteriovenous malformation of face (disorder)	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Fronto-malar faciosynostosis	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Kongenit ektodermal dysplasi af ansigtet	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital malformation of tongue, mouth and pharynx (disorder)	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Robinow-like syndrome	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital melanocytic nevus of face	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or icthyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed.	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Diprosopus	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Floating-Harbour syndrome	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Preauricular dimple	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Centrofacial lentiginosis syndrome (disorder)	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Naso-labial cyst	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches.	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others.	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Weissenbacher-Zweymuller syndrome	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive.	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital anomaly of lacrimal bone	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
A rare genetic overgrowth syndrome characterised by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumour. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behaviour.	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
The mildest form of otopalatodigital syndrome spectrum disorder, characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation have a broad range of phenotypic expression.	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
A severe form of otopalatodigital syndrome spectrum disorder with characteristics of dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system and intestine) and poor survival. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation are less severely affected.	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Preauricular cyst	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Basal encephalocele (disorder)	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
A syndrome with characteristics of facial dysmorphism, a progeroid appearance, large and late closing fontanelle, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.	Is a	False	Congenital anomaly of face (disorder)	Inferred relationship	Some
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital infiltrating lipomatosis of face (disorder)	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
A rare, isolated, congenital, head and neck morphological anomaly characterised by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. Although isolated in the majority of cases, newborns presenting with this morphological anomaly should be referred for further screening for 22q11.2 deletion syndrome and/or other coexisting cardiovascular, musculoskeletal, cervicofacial, respiratory, genitourinary and endocrine anomalies.	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Ectopic parotid gland tissue	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Accessory parotid gland	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Aplasia of parotid gland	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Oculopharyngeal muscular dystrophy	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital conjunctival cyst	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Strabismus fixus	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Supernumerary eye muscle	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Hypoplasia of eye muscle	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital superior sulcus anomaly of orbit	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital malformation of vitreous humour	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some
Congenital malformation of blood vessel of orbit proper (disorder)	Is a	True	Congenital anomaly of face (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1766221014	Congenital anomaly of face (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1777842010	Congenital anomaly of face	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786204011	Facial malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786205012	Facial dysmorphism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2309471000005115	Kongenit anomali af ansigtet	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)