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787413007: Bifid nose (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3775348016 Bifid nose (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3775349012 Bifid nose en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3775350012 Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance with characteristics of clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3775348016 Bifid nose (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3775349012 Bifid nose en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3775350012 Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance with characteristics of clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3384851001000118 Nase, bifide de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5750891000241113 nez bifide fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5750891000241113 nez bifide fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3384851001000118 Nase, bifide de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Bifid nose (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Bifid nose (disorder) Is a fente nasale congénitale true Inferred relationship Existential restriction modifier (core metadata concept)
Bifid nose (disorder) Is a Craniofacial cleft (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Bifid nose (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Bifid nose (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Bifid nose (disorder) Is a Autosomal hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Bifid nose (disorder) Finding site Nasal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Bifid nose (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Bifid nose (disorder) Finding site Bone structure of head false Inferred relationship Existential restriction modifier (core metadata concept) 2
Bifid nose (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Bifid nose (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Bifid nose (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Bifid nose (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Bifid nose (disorder) Is a Orofacial cleft false Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group
BNAR syndrome is a very rare multiple congenital anomaly syndrome characterised by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome. Is a True Bifid nose (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991. Is a True Bifid nose (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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