128274005: Congenital anomaly of nose (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)\Congenital anomaly of nose
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of the nose (disorder)\Congenital anomaly of nose
\Head finding (finding)\Finding of head region\Finding of face\Nose finding\Disorder of the nose (disorder)\Congenital anomaly of nose
\Head finding (finding)\Finding of head region\Disorder of nose and nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose
\Head finding (finding)\Finding of head region\Disorder of nose and nasopharynx\Disorder of the nose (disorder)\Congenital anomaly of nose
\Head finding (finding)\Disorder of head (disorder)\Disorder of nose and nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose
\Head finding (finding)\Disorder of head (disorder)\Disorder of nose and nasopharynx\Disorder of the nose (disorder)\Congenital anomaly of nose
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of nose
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of the nose (disorder)\Congenital anomaly of nose
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of nose
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose

\Ear, nose and throat finding (finding)\Ear, nose and throat disorder\Disorder of the nose (disorder)\Congenital anomaly of nose
\Ear, nose and throat finding (finding)\Nose finding\Disorder of the nose (disorder)\Congenital anomaly of nose

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of nose
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose
\Disease\Ear, nose and throat disorder\Disorder of the nose (disorder)\Congenital anomaly of nose
\Disease\Disorder of head (disorder)\Disorder of nose and nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose
\Disease\Disorder of head (disorder)\Disorder of nose and nasopharynx\Disorder of the nose (disorder)\Congenital anomaly of nose
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of nose
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of the nose (disorder)\Congenital anomaly of nose
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of nose
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of nose
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

206539012 Congenital anomaly of nose en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

732247016 Congenital anomaly of nose (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2759801000005118 Kongenit anomali af næsen da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of nose	Is a	Congenital anomaly of face	false	Inferred relationship	Some
Congenital anomaly of nose	Is a	Disorder of the nose (disorder)	true	Inferred relationship	Some
Congenital anomaly of nose	Is a	Congenital anomaly of upper respiratory system	false	Inferred relationship	Some
Congenital anomaly of nose	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of nose	Finding site	Nasal structure	true	Inferred relationship	Some	1
Congenital anomaly of nose	Finding site	Upper respiratory tract structure	false	Inferred relationship	Some
Congenital anomaly of nose	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Congenital anomaly of nose	Is a	kongenit anomali i respirationssystemet	false	Inferred relationship	Some
Congenital anomaly of nose	Finding site	Structure of respiratory system (body structure)	false	Inferred relationship	Some	1
Congenital anomaly of nose	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of nose	Is a	Congenital abnormality of nose and nasopharynx	true	Inferred relationship	Some
Congenital anomaly of nose	Is a	Congenital anomaly of face (disorder)	true	Inferred relationship	Some
Congenital anomaly of nose	Is a	Congenital malformation	false	Inferred relationship	Some
Congenital anomaly of nose	Associated morphology	kongenit abnorm form	false	Inferred relationship	Some	1
Congenital anomaly of nose	Is a	Lesion of nose	false	Inferred relationship	Some
Congenital anomaly of nose	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of nose	Finding site	Nasal structure	false	Inferred relationship	Some	1
Congenital anomaly of nose	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of nose	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of nose	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Congenital anomaly of nose	Finding site	Nasal structure	false	Inferred relationship	Some	2
Congenital anomaly of nose	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of nose	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital anomaly of nose	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital absence of nose	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
Congenital atresia of nares	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
Congenital deformity of nose	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
Nasal glial heterotopia	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
Nasal encephalocele	Is a	False	Congenital anomaly of nose	Inferred relationship	Some
Syphilitic saddle nose	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
Congenital anomaly of nasal bone	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
Congenital anomaly of vomer	Is a	False	Congenital anomaly of nose	Inferred relationship	Some
Naso-maxillary dysostosis	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
Congenital anosmia	Is a	False	Congenital anomaly of nose	Inferred relationship	Some
Saddelnæse	Is a	False	Congenital anomaly of nose	Inferred relationship	Some
Congenital stenosis of choanae	Is a	False	Congenital anomaly of nose	Inferred relationship	Some
Vomero-premaxillary faciosynostosis	Is a	False	Congenital anomaly of nose	Inferred relationship	Some
Accessory nose	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
Congenital anomaly of nasal turbinate	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
Congenital perforation of nasal septum	Is a	False	Congenital anomaly of nose	Inferred relationship	Some
Congenital stenosis of nares	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
Congenital hypoplasia of nasal septum	Is a	False	Congenital anomaly of nose	Inferred relationship	Some
Congenital hypoplasia of nasal cavity	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
Congenital hypoplasia of nose	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
Median nasal dermoid fistula	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
Congenital hypertrophy of nasal cavity	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
Congenital malposition of nose	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
Congenital malformation of nasal septum (disorder)	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
Congenital anosmia	Is a	False	Congenital anomaly of nose	Inferred relationship	Some
Congenital notching of tip of nose	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
Congenital saddle nose (disorder)	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
A rare, major congenital malformation characterized by complete duplication of the nose resulting in two fully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair.	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
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	False	Congenital anomaly of nose	Inferred relationship	Some
Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized 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	False	Congenital anomaly of nose	Inferred relationship	Some
Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
Rhinocephaly	Is a	True	Congenital anomaly of nose	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 anomaly of nose	Inferred relationship	Some
Midline fissured, notched and cleft nose	Is a	False	Congenital anomaly of nose	Inferred relationship	Some
Kongenit flad eller krum næse	Is a	False	Congenital anomaly of nose	Inferred relationship	Some
Congenital malposition of nares (disorder)	Is a	False	Congenital anomaly of nose	Inferred relationship	Some
Agenesis of nasal cartilages	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
A rare frontonasal dysplasia malformation syndrome with characteristics of an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts and bilateral symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991.	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
Congenital fissure of nose	Is a	False	Congenital anomaly of nose	Inferred relationship	Some
Congenital bent nose	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
Congenital cleft nose	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
Single naris	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
Holoprosencephaly co-occurrent with congenital nasal pyriform aperture stenosis (disorder)	Is a	False	Congenital anomaly of nose	Inferred relationship	Some
Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
Congenital stenosis of nasal pyriform aperture (disorder)	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected.	Is a	True	Congenital anomaly of nose	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed.	Is a	True	Congenital anomaly of nose	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
206539012	Congenital anomaly of nose	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
732247016	Congenital anomaly of nose (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2759801000005118	Kongenit anomali af næsen	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)