112635002: Congenital malformation (morphologic abnormality)

Status: retired, Primitive. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

183283010 Congenital malformation en Synonym Active Case insensitive SNOMED CT core

642068012 Congenital malformation (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital malformation	Is a	Congenital anomaly	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Indeterminate sex NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Van der Woude syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Other cervical, vaginal and external female genital anomaly NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Cavernous haemangioma	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Cervical, vaginal and external female genital anomalies, unspecified	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital anomaly of salivary glands and ducts	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital fissure of epiglottis	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Other specified mouth and pharynx anomalies	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital vascular malformation due to inherited syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Atretocephalus	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Female hypospadias	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Grafting of palate for cleft palate repair	Direct morphology	False	Congenital malformation	Inferred relationship	Some	2
False hermaphrodite	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
[X]Other congenital malformations of renal artery	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Percutaneous transluminal ablation of congenital heart malformation	Direct morphology	False	Congenital malformation	Inferred relationship	Some	1
Mohr syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Shprintzen syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Rieger syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Hemicardia	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital enlargement of nasopharynx	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Prune belly syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Congenital anomaly of endocrine testis	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Congenital anomaly of the respiratory system	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Holoprosencephaly sequence	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Persistent omphalomesenteric artery	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Rudimentary uterus in male	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Perodactylia of great toe	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Incomplete ossification of sternebra	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Perineal hypospadias	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
[X]Other congenital malformation syndromes with other skeletal changes	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Indeterminate sex and pseudohermaphroditism	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital anterior capsular pigmentation	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Penoscrotal hypospadias	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital pharyngeal polyp	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Langer-Giedion syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Hypospadias, balanic	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Klippel-Trenaunay-Weber syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Developmental anomaly of vitelline duct	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Synotus	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type I	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Cleft tongue	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Mietens syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Central nervous system malformation in fetus affecting obstetrical care	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Lack of ossification of sternebra	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Agnathus	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital short hard palate	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Pure gonadal dysgenesis	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Congenital vascular malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital anomaly of endocrine gonad	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Congenital anomaly of sternebra	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Correction of congenital anorectal malformation	Direct morphology	False	Congenital malformation	Inferred relationship	Some	1
Hooded clitoris	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Verrucous haemangioma of skin	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Coffin-Siris syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Anomaly of artery NEC	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Mis-shapen sternum	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital malformation syndromes affecting facial appearance	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital hypoplasia of genital tubercle	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Pure gonadal dysgenesis 46,XY	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Absence of genital organ NEC	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Hypoplasia of genital organ NEC	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital vascular malformation of lip	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Hay-Wells syndrome of ectodermal dysplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Diplopodia	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Pseudohermaphroditism	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital vascular malformation of skin	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Fordyce spots of buccal mucosa	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Pseudohermaphrodite NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Ruvalcaba syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type III	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Other congenital anomaly of testis or scrotum	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital anomaly of uterus and cervix	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital malformation of clitoris	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Sacroperineal pull-through	Direct morphology	False	Congenital malformation	Inferred relationship	Some	1
Pancreatic duct anomaly	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Congenital aplasia of genital organ NEC	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Derencephalus	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Cervical, vaginal and external female genital anomaly NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Fetal hydantoin syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Alobar holoprosencephaly	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Perodactylia of multiple toes	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital malformation of posterior pituitary	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Male pseudohermaphroditism	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Genital organ anomaly NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Larsen syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Uterus parvicollis	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Pure gonadal dysgenesis 46,XX	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Macropalpebral fissure	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Cysts of embryonic remnants NEC	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Ambiguous genitalia	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Ruvalcaba-Myhre syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
[EDTA] Syndrome of agenesis of abdominal muscles (Prune belly syndrome) associated with renal failure	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Displacement of Wharton's duct	Associated morphology	False	Congenital malformation	Inferred relationship	Some	3
Other cervical, vaginal and external female genital anomaly	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Sturge-Weber syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Persistent cerebral embryonic artery	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Vascular malformation of inner ear	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital anomaly of sphenoid wing	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Unilateral congenital dysplasia of lung with vascular anomalies	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Lymphopenic agammaglobulinaemia - short-limbed dwarfism syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2

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Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
183283010	Congenital malformation	en	Synonym	Active	Case insensitive	SNOMED CT core
642068012	Congenital malformation (morphologic abnormality)	en	Fully specified name	Active	Case insensitive	SNOMED CT core