398206004: Congenital deformity of face (disorder)

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

\Deformity (finding)\Congenital deformity\Congenital deformity of face (disorder)

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

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital deformity\Congenital deformity of face (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of face (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

1766125014 Congenital deformity of face (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1777758015 Congenital deformity of face en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

175011000077114 malformation congénitale du visage fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital deformity of face (disorder)	Is a	Congenital anomaly of face (disorder)	true	Inferred relationship	Some
Congenital deformity of face (disorder)	Is a	Congenital deformity	true	Inferred relationship	Some
Congenital deformity of face (disorder)	Finding site	Face structure	false	Inferred relationship	Some	1
Congenital deformity of face (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Congenital deformity of face (disorder)	Associated morphology	Congenital deformity	false	Inferred relationship	Some	1
Congenital deformity of face (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Congenital deformity of face (disorder)	Associated morphology	Congenital deformity	false	Inferred relationship	Some	1
Congenital deformity of face (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital deformity of face (disorder)	Finding site	Face structure	false	Inferred relationship	Some	2
Congenital deformity of face (disorder)	Associated morphology	Congenital deformity	false	Inferred relationship	Some	2
Congenital deformity of face (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital deformity of face (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital deformity of face (disorder)	Associated morphology	Deformity	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital deformity of forehead	Is a	True	Congenital deformity of face (disorder)	Inferred relationship	Some
Congenital deformity of nose (disorder)	Is a	True	Congenital deformity of face (disorder)	Inferred relationship	Some
Congenital deformity of wall of nasal sinus	Is a	False	Congenital deformity of face (disorder)	Inferred relationship	Some
Hemifacial myohyperplasia	Is a	True	Congenital deformity of face (disorder)	Inferred relationship	Some
Congenital abnormal vertical shortness of eyelids	Is a	True	Congenital deformity of face (disorder)	Inferred relationship	Some
Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly.	Is a	False	Congenital deformity of face (disorder)	Inferred relationship	Some
Congenital entropion	Is a	True	Congenital deformity of face (disorder)	Inferred relationship	Some
Midline fissured, notched and cleft nose	Is a	False	Congenital deformity of face (disorder)	Inferred relationship	Some
Congenital squashed or bent nose	Is a	False	Congenital deformity of face (disorder)	Inferred relationship	Some
Brachygnathism	Is a	False	Congenital deformity of face (disorder)	Inferred relationship	Some
Congenital ectropion	Is a	True	Congenital deformity of face (disorder)	Inferred relationship	Some
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.	Is a	True	Congenital deformity of face (disorder)	Inferred relationship	Some
Congenital hypoplasia of nasal septum	Is a	False	Congenital deformity of face (disorder)	Inferred relationship	Some
An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. The condition is most probably hereditary, transmitted as an autosomal dominant trait.	Is a	False	Congenital deformity of face (disorder)	Inferred relationship	Some
Congenital ectropion of lip	Is a	True	Congenital deformity of face (disorder)	Inferred relationship	Some
Choanal atresia with coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association	Is a	False	Congenital deformity 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 deformity of face (disorder)	Inferred relationship	Some
Congenital fissure of nose	Is a	False	Congenital deformity of face (disorder)	Inferred relationship	Some
Blepharophimosis syndrome	Is a	False	Congenital deformity of face (disorder)	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome (disorder)	Is a	True	Congenital deformity of face (disorder)	Inferred relationship	Some
A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed.	Is a	False	Congenital deformity of face (disorder)	Inferred relationship	Some
A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2).	Is a	True	Congenital deformity of face (disorder)	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases.	Is a	True	Congenital deformity of face (disorder)	Inferred relationship	Some
Congenital combined bony and soft tissue deformity of orbit (disorder)	Is a	True	Congenital deformity of face (disorder)	Inferred relationship	Some
Abnormally short ramus of mandible (disorder)	Is a	True	Congenital deformity 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
1766125014	Congenital deformity of face (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1777758015	Congenital deformity of face	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
175011000077114	malformation congénitale du visage	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module