107656002: Congenital anomaly (morphologic abnormality)

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

Descriptions:

Id Description Lang Type Status Case? Module

172092016 Congenital anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2848101000005119 kongenit anomali 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
kongenit anomali	Is a	Morphologically abnormal structure	false	Inferred relationship	Some
kongenit anomali	Is a	dysgenese	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital abnormal fusion of vomer	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Andre anomalier i tuba uterina og ligamentum latum uteri	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Baller-Gerold syndrome	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Acrosyndactyly of thumb (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Brachycephaly	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Spina bifida aperta of thoracic spine (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Congenital hypertrophy of sphenoid bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital spondylolisthesis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Spheno-fronto-parietal craniofaciosynostosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Congenital abnormal fusion of exoccipital bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Embryonisk cyste på tuba uterina eller ligamentum latum uteri, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Congenital abnormal shape of alisphenoid bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital absence of lacrimal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital anomaly of lacrimal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Acrocephalosyndactyly type V (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Congenital abnormal fusion of lacrimal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords at crest ventricular septum (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital abnormal fusion of basioccipital bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital fenestration of basioccipital bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Lack of ossification of parietal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital abnormal shape of basioccipital bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Incomplete ossification of alisphenoid bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital absence of vomer	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital hypoplasia of lacrimal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Andre anomalier i tuba uterina eller ligamentum latum uteri, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords to papillary muscle on right ventricular side septum (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Atrioventricular septal defect with ventricular component under free floating superior bridging leaflet and chords to papillary muscle at right ventricular free wall (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Anomalier i tuba uterina eller ligamentum latum uteri, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
anomali af cerebrovaskulære system, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital anomaly of vomer	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
kongenit multipel artrogrypose	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Anomalier i tuba uterina og ligamentum latum uteri, uspecificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Congenital anomaly of parietal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Prepapillary vascular loop (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Anomalier af cerebrovaskulære system	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Incomplete ossification of basioccipital bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Lack of ossification of basioccipital bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Frontoparietal kraniofaciosynostose	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Imperfect fusion of skull	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Pataus syndrom, mosaik	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Aperts syndrom	Associated morphology	False	kongenit anomali	Inferred relationship	Some	4
Congenital hypoplasia of basioccipital bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital abnormal fusion of parietal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital arteriovenous malformation of gastrointestinal tract (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital abnormal shape of vomer	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Incomplete ossification of vomer	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Cloverleaf skull syndrome (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital spondylolisthesis of cervical vertebra (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Incomplete ossification of lacrimal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Atrioventricular septal defect - ventricular component under superior bridging leaflet	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital hypoplasia of exoccipital bone (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital hypoplasia of vomer	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Vomero-premaxillary faciosynostosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital generalized flexion contractures of lower limb joints	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Fronto-frontal dysostosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Spheno-frontal dysostosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Parieto-occipital craniosynostosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Kongenit anomali af cerebralt kar, uspecificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
anden specificeret cerebrovaskulær anomali	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
[X]Other congenital malformations of fallopian tube and broad ligament	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
[X]Other congenital malformations of fallopian tube and broad ligament	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Fallopian tube and broad ligament anomalies (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Anomalier i tuba uterina og ligamentum latum uteri, uspecificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Embryonisk cyste på tuba uterina eller ligamentum latum uteri, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Andre anomalier i tuba uterina og ligamentum latum uteri	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Andre anomalier i tuba uterina eller ligamentum latum uteri, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Anomalier i tuba uterina eller ligamentum latum uteri, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital abnormality of atrioventricular valves in atrioventricular septal defect (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Atrioventricular septal defect - isolated ventricular component	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Atrioventricular septal defect: atrial and ventricular components	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Atrioventricular septal defect - ventricular component under inferior bridging leaflet (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Reconstruction of radial club hand (procedure)	Direct morphology	False	kongenit anomali	Inferred relationship	Some	2
Mittendorf's dot (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital vascular anomaly of eye	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
velokardiofacialt syndrom	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Trigonocephaly	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
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.	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Unicoronal craniosynostosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Bicoronal craniosynostosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Acrosyndactyly of thumb (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Repair of interrupted aortic arch (procedure)	Direct morphology	False	kongenit anomali	Inferred relationship	Some	1
Persistent hyaloid artery	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Spina bifida aperta of cervical spine (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital abnormal shape of lacrimal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Congenital abnormal shape of squamosal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital abnormal shape of vomer	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital fenestration of alisphenoid bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital anomaly of alisphenoid bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital anomaly of basioccipital bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital anomaly of exoccipital bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital anomaly of frontal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital anomaly of lacrimal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Lack of ossification of vomer	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Lack of ossification of vomer	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital hypoplasia of alisphenoid bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital hypoplasia of frontal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital abnormal fusion of alisphenoid bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital abnormal fusion of frontal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital abnormal fusion of lacrimal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Congenital abnormal fusion of vomer	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Congenital abnormal shape of exoccipital bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2

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Id	Description	Lang	Type	Status	Case?	Module
172092016	Congenital anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
593259012	Congenital anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2848101000005119	kongenit anomali	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)