112635002: Congenital malformation (morphologic abnormality)

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

Descriptions:

Id Description Lang Type Status Case? Module

183283010 Congenital malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

642068012 Congenital malformation (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

130541000052114 medfödd missbildning sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
medfödd missbildning	Is a	kongenital anomali	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Anomaly of artery NEC	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Mis-shapen sternum	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
medfödda missbildningssyndrom som påverkar ansiktets utseende	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital hypoplasia of genital tubercle (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Pure gonadal dysgenesis 46,XY	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Absence of genital organ NEC	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Hypoplasia of genital organ NEC	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital vascular malformation of lip (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Hay-Wells syndrome of ectodermal dysplasia	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Diplopodia	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Pseudohermaphroditism	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
medfödd kärlmissbildning i huden	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Fordyce spots of buccal mucosa (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Pseudohermaphrodite NOS	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Ruvalcaba syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type III (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Other congenital anomaly of testis or scrotum	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital malformation of uterus and cervix (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital malformation of clitoris	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Sacroperineal pull-through	Direct morphology	False	medfödd missbildning	Inferred relationship	Some	1
Pancreatic duct anomaly	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Congenital aplasia of genital organ NEC	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Derencephalus	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Cervical, vaginal and external female genital anomaly NOS	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Fetal hydantoin syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Alobar holoprosencephaly	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Perodactylia of multiple toes	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital malformation of posterior pituitary	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Male pseudohermaphroditism	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Genital organ anomaly NOS	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Larsen syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Uterus parvicollis	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Pure gonadal dysgenesis 46,XX	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Macropalpebral fissure	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Cysts of embryonic remnants NEC	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Ambiguous genitalia	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Ruvalcaba-Myhres syndrom	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
[EDTA] Syndrome of agenesis of abdominal muscles (Prune belly syndrome) associated with renal failure	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Displacement of Wharton's duct	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	3
Other cervical, vaginal and external female genital anomaly	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Sturge-Weber syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Persistent cerebral embryonic artery	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Vascular malformation of inner ear	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital malformation of sphenoid wing (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
medfödd ensidig dysplasi av lunga med vaskulära anomalier	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Cutaneous vascular malformation (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Annular pancreas	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Persistence of primitive artery	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Arterial malformation	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Exstrophy of cloaca sequence (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	3
Hypospadias (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Anomalies of pancreas	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Melnick-Fraser syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital malformation of the urinary system	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Anomalies of pancreas NOS	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Persistent cerebral embryonic artery	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Persistent omphalomesenteric artery (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Leydig cell agenesis	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Endemic congenital iodine deficiency syndrome of myxedematous type (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Sturge-Weber syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Other specified anomalies of pancreas	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital malformation of pancreas	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Cobb's syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Vein of Galen malformation (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Single stage epispadias repair	Direct morphology	False	medfödd missbildning	Inferred relationship	Some	1
Septo-optic dysplasia sequence	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Revision of male epispadias repair	Direct morphology	False	medfödd missbildning	Inferred relationship	Some	2
Oromandibular-limb hypogenesis spectrum	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Male epispadias repair	Direct morphology	False	medfödd missbildning	Inferred relationship	Some	1
Acrocephalopolysyndactyly type II (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Iniencephaly NOS	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Trichorhinophalangeal syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Acrocephalosyndactyly	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Opitz-Frias syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Iniencephaly - closed	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Iniencephaly - open	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Acrocephalopolysyndactyly type III (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Iniencephaly	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Delta phalanx of finger	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Leydig cell agenesis	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Acrocephalopolysyndactyly	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Holoprosencephaly sequence	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Second stage of two-stage epispadias repair	Direct morphology	False	medfödd missbildning	Inferred relationship	Some	1
Langer-Giedion syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
gemensamt hjärtförmak	Is a	False	medfödd missbildning	Inferred relationship	Some
gemensam hjärtkammare	Is a	False	medfödd missbildning	Inferred relationship	Some
Single stage epispadias repair	Direct morphology	False	medfödd missbildning	Inferred relationship	Some	1
First stage of two-stage epispadias repair	Direct morphology	False	medfödd missbildning	Inferred relationship	Some	1
Second stage of two-stage epispadias repair	Direct morphology	False	medfödd missbildning	Inferred relationship	Some	1
Male epispadias repair	Direct morphology	False	medfödd missbildning	Inferred relationship	Some	1
Delta phalanx of finger	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital bronchomalacia	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Port-wine stain of skin (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Isolation of left common carotid artery (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital malformation of vitreous humour	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital malformation of ear	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital malformation of the meninges	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Secondary congenital bronchomalacia	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital malformation of trachea and bronchus	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1

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Id	Description	Lang	Type	Status	Case?	Module
183283010	Congenital malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
642068012	Congenital malformation (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
130541000052114	medfödd missbildning	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)