112635002: Congenital malformation (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2014. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

183283010 Congenital malformation en Synonym Active Entire term case insensitive SNOMED CT core module

642068012 Congenital malformation (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 malformation	Is a	Congenital anomaly	false	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Anomaly of artery NEC	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Mis-shapen sternum	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Congenital malformation syndromes affecting facial appearance	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Congenital hypoplasia of genital tubercle	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Pure gonadal dysgenesis 46,XY	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Absence of genital organ NEC	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Hypoplasia of genital organ NEC	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Congenital vascular malformation of lip	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Hay-Wells syndrome of ectodermal dysplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Diplopodia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Pseudohermaphroditism	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Congenital vascular malformation of skin	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Fordyce spots of buccal mucosa	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Pseudohermaphrodite NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Ruvalcaba syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Trichorhinophalangeal dysplasia type III	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Other congenital anomaly of testis or scrotum	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Congenital malformation of uterus and cervix	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Congenital malformation of clitoris	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Sacroperineal pull-through	Direct morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Pancreatic duct anomaly	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Congenital aplasia of genital organ NEC	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Derencephalus	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Cervical, vaginal and external female genital anomaly NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Fetal hydantoin syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Alobar holoprosencephaly	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Perodactylia of multiple toes	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Congenital malformation of posterior pituitary	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Male pseudohermaphroditism	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Genital organ anomaly NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Larsen syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Uterus parvicollis	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Pure gonadal dysgenesis 46,XX	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Macropalpebral fissure	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Cysts of embryonic remnants NEC	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Ambiguous genitalia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Ruvalcaba-Myhre syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
[EDTA] Syndrome of agenesis of abdominal muscles (Prune belly syndrome) associated with renal failure	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Displacement of Wharton's duct	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	3
Other cervical, vaginal and external female genital anomaly	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Sturge-Weber syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Persistent cerebral embryonic artery	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Vascular malformation of inner ear	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Congenital malformation of sphenoid wing	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Unilateral congenital dysplasia of lung with vascular anomalies	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Cutaneous vascular malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Annular pancreas	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Persistence of primitive artery	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Arterial malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Exstrophy of cloaca sequence	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	3
Hypospadias	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Anomalies of pancreas	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Melnick-Fraser syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Congenital malformation of the urinary system	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Anomalies of pancreas NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Persistent cerebral embryonic artery	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Persistent omphalomesenteric artery	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Leydig cell agenesis	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Endemic congenital iodine deficiency syndrome of myxedematous type	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Sturge-Weber syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Other specified anomalies of pancreas	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Congenital malformation of pancreas	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Cobb's syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Vein of Galen malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type V	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Single stage epispadias repair	Direct morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Septo-optic dysplasia sequence	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Revision of male epispadias repair	Direct morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Oromandibular-limb hypogenesis spectrum	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Male epispadias repair	Direct morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Acrocephalopolysyndactyly type II	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Iniencephaly NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Trichorhinophalangeal syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Opitz-Frias syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Iniencephaly - closed	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Iniencephaly - open	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Acrocephalopolysyndactyly type III	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Iniencephaly	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Delta phalanx of finger	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Leydig cell agenesis	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Acrocephalopolysyndactyly	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Holoprosencephaly sequence	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Second stage of two-stage epispadias repair	Direct morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Langer-Giedion syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Common cardiac atrium	Is a	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Common cardiac ventricle	Is a	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Single stage epispadias repair	Direct morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
First stage of two-stage epispadias repair	Direct morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Second stage of two-stage epispadias repair	Direct morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Male epispadias repair	Direct morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Delta phalanx of finger	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Congenital bronchomalacia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Port-wine stain of skin	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Isolation of left common carotid artery	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Congenital malformation of vitreous humor	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Congenital malformation of ear	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Congenital malformation of the meninges	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Secondary congenital bronchomalacia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Congenital malformation of trachea and bronchus	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1

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