402810002: Developmental malformation of branchial arch (disorder)

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

\Disorder of embryonic structure (disorder)\Developmental malformation of branchial arch (disorder)

\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Developmental malformation of branchial arch (disorder)

\Developmental disorder\Congenital malformation\Developmental malformation of branchial arch (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2004. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1770734016 Developmental malformation of branchial arch (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1781902015 Developmental malformation of branchial arch en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6064641000241116 anomalie congénitale du développement d'un arc branchial fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6064651000241118 malformation développementale d'un arc branchial 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
Developmental malformation of branchial arch (disorder)	Is a	Ear, face and neck congenital anomalies	false	Inferred relationship	Some
Developmental malformation of branchial arch (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Developmental malformation of branchial arch (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Developmental malformation of branchial arch (disorder)	Finding site	Structure of head and/or neck (body structure)	false	Inferred relationship	Some	2
Developmental malformation of branchial arch (disorder)	Associated morphology	anomalie congénitale du développement	false	Inferred relationship	Some	1
Developmental malformation of branchial arch (disorder)	Finding site	Branchial arch structure	false	Inferred relationship	Some	1
Developmental malformation of branchial arch (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Developmental malformation of branchial arch (disorder)	Finding site	Structure of head and/or neck (body structure)	false	Inferred relationship	Some	2
Developmental malformation of branchial arch (disorder)	Associated morphology	anomalie congénitale du développement	false	Inferred relationship	Some	1
Developmental malformation of branchial arch (disorder)	Finding site	Branchial arch structure	true	Inferred relationship	Some	1
Developmental malformation of branchial arch (disorder)	Is a	Disorder of embryonic structure (disorder)	true	Inferred relationship	Some
Developmental malformation of branchial arch (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Developmental malformation of branchial arch (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Some	3
Developmental malformation of branchial arch (disorder)	Finding site	Branchial arch structure	false	Inferred relationship	Some	3
Developmental malformation of branchial arch (disorder)	Is a	Congenital malformation	true	Inferred relationship	Some
Developmental malformation of branchial arch (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Developmental malformation of branchial arch (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Developmental malformation of branchial arch (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Midline cervical cleft (disorder)	Is a	False	Developmental malformation of branchial arch (disorder)	Inferred relationship	Some
Preauricular sinus	Due to	False	Developmental malformation of branchial arch (disorder)	Inferred relationship	Some
Preauricular fistula	Due to	False	Developmental malformation of branchial arch (disorder)	Inferred relationship	Some
Preauricular sinus and fistula	Due to	False	Developmental malformation of branchial arch (disorder)	Inferred relationship	Some
Preauricular sinus, pit or fistula	Due to	False	Developmental malformation of branchial arch (disorder)	Inferred relationship	Some
Preauricular sinus or fistula NOS	Due to	False	Developmental malformation of branchial arch (disorder)	Inferred relationship	Some
Persisting fifth aortic arch	Is a	True	Developmental malformation of branchial arch (disorder)	Inferred relationship	Some
First and second branchial arch syndrome	Is a	True	Developmental malformation of branchial arch (disorder)	Inferred relationship	Some
A very rare syndrome described in four siblings of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.	Is a	True	Developmental malformation of branchial arch (disorder)	Inferred relationship	Some
Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (including cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).	Is a	True	Developmental malformation of branchial arch (disorder)	Inferred relationship	Some
Melnick-Fraser syndrome	Is a	True	Developmental malformation of branchial arch (disorder)	Inferred relationship	Some
Epibulbar lipodermoid - preauricular appendages - polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids.	Is a	True	Developmental malformation of branchial arch (disorder)	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay/intellectual disability are variably reported.	Is a	True	Developmental malformation of branchial arch (disorder)	Inferred relationship	Some

This concept is not in any reference sets