107656002: Congenital anomaly (morphologic abnormality)

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

Descriptions:

Id Description Lang Type Status Case? Module

172092016 Congenital anomaly en Synonym Active Entire term case insensitive SNOMED CT core module

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly	Is a	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier
Congenital anomaly	Is a	Developmental anomaly	false	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital abnormality of external ear	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Retrosternal thyroid gland	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital abnormality of iris and ciliary body	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Mosaicism 45, X; 46, XX	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Hereditary splenic hypoplasia	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Thyroglossal duct anomaly	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Gynandromorphism syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Group chromosomal alteration	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Chromosomal alterations of group A	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Chromosomal alterations of group B	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Chromosomal alterations of group C and X	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Chromosomal alterations of group D	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Chromosomal alterations of group E	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Chromosomal alterations of group F	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Chromosomal alterations of group G and Y	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of aortic arch AND/OR descending aorta	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital anomaly of visual system	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Isologous chimera	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital anomaly of central nervous system	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Ring chromosome 22 syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Anomaly of chromosome pair 3	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
12p partial trisomy syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Hypoplastic chondrodystrophy	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Diplomyelia	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Diplomyelia	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Myeloschisis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Myeloschisis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
20q partial trisomy	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Coffin-Lowry syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Central nervous system malformation in fetus affecting obstetrical care	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
21q partial monosomy syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
10q partial monosomy	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Ligation of supernumerary fingers	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Anomaly of chromosome pair 15	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital stenosis of external auditory canal	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
4p partial monosomy syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Allantoic cyst	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Anomaly of chromosome pair 13	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital stenosis of aortic valve	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Preauricular cyst	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Syringomyelobulbia	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Epidermodysplasia verruciformis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital cerebral cyst	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
8p partial monosomy syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
22q partial monosomy	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Preauricular dimple	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Nodular calcific aortic valve stenosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
14q partial distal trisomy syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Complete trisomy 13 syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Colloid cyst of third ventricle	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Complete trisomy 14 syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital anomaly of middle ear	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital anomaly of the peripheral nervous system	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Chimera	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
9q partial trisomy syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Mandibular prognathism	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Ring chromosome 20 syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital anomaly of peripheral nerve	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Median mandibular cyst	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Distal arthrogryposis syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Meromicrosomia	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Iniencephaly	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Iniencephaly	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Iniencephaly	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	4
7p partial monosomy	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Cat eye syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
11p partial trisomy syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Faun tail syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Syringobulbia	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Persistent thyroglossal duct	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Cervical auricle	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Anomaly of chromosome pair 14	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Inherited arthrogryposis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital insufficiency of aortic valve	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Anomaly of chromosome pair 10	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
13q partial monosomy syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
8q partial monosomy syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
1q partial monosomy	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Spina bifida of dorsal region	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Ring chromosome 21 syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Arteriohepatic dysplasia	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
12p partial monosomy syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Anomaly of chromosome pair 17	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Craniorachischisis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Craniorachischisis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Spina bifida of cervical region	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Anomaly of chromosome pair 2	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital anomaly of the thyroid gland	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
7q partial trisomy	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Mandibular retrognathism	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Trisomy X syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Ligation of supernumerary toes	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Sex phenotype-karyotype dissociation syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
1p partial monosomy	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Transposition of pulmonary veins	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Craniometaphyseal dysplasia	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
16q partial monosomy syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital enlargement of coronary sinus	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Anomaly of chromosome pair 7	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Known OR suspected fetal spina bifida with myelomeningocele affecting obstetrical care	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	4
Known OR suspected fetal spina bifida with myelomeningocele affecting obstetrical care	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	4

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