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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital malformation	Is a	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Anomaly of artery NEC	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Misshapen sternum	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation syndromes affecting facial appearance	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital hypoplasia of genital tubercle	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pure gonadal dysgenesis 46,XY	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Absence of genital organ NEC	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypoplasia of genital organ NEC	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital vascular malformation of lip (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hay-Wells syndrome of ectodermal dysplasia (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Diplopodia (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pseudohermaphroditism (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital vascular malformation of skin	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fordyce spots of buccal mucosa	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pseudohermaphrodite NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ruvalcaba syndrome (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Trichorhinophalangeal dysplasia type III	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Other congenital anomaly of testis or scrotum	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of uterus and cervix	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of clitoris	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Sacroperineal pull-through	Direct morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pancreatic duct anomaly (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital aplasia of genital organ NEC	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Derencephalus	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cervical, vaginal and external female genital anomaly NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fetal hydantoin syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alobar holoprosencephaly	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Perodactylia of multiple toes	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of posterior pituitary	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Male pseudohermaphroditism	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Genital organ anomaly NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Larsen syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Uterus parvicollis	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pure gonadal dysgenesis 46,XX	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Macropalpebral fissure (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cysts of embryonic remnants NEC	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ambiguous genitalia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ruvalcaba-Myhre syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	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 (core metadata concept)	1
Displacement of Wharton's duct	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Other cervical, vaginal and external female genital anomaly	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Sturge-Weber syndrome (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Persistent cerebral embryonic artery	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Vascular malformation of inner ear	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of sphenoid wing	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Unilateral congenital dysplasia of lung with vascular anomalies	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cutaneous vascular malformation (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Annular pancreas	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Persistence of primitive artery (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Arterial malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Exstrophy of cloaca sequence	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hypospadias (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomalies of pancreas	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Melnick-Fraser syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of the urinary system	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomalies of pancreas NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Persistent cerebral embryonic artery	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Persistent omphalomesenteric artery (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Leydig cell agenesis	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Endemic congenital iodine deficiency syndrome of myxedematous type (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Sturge-Weber syndrome (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Other specified anomalies of pancreas	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of pancreas (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cobb's syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Vein of Galen malformation (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acrocephalosyndactyly type V (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Single stage epispadias repair (procedure)	Direct morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Septo-optic dysplasia sequence	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Revision of male epispadias repair	Direct morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Male epispadias repair	Direct morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acrocephalopolysyndactyly type II	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Iniencephaly NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Trichorhinophalangeal syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acrocephalosyndactyly	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Opitz-Frias syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Iniencephaly - closed	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Iniencephaly - open	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acrocephalopolysyndactyly type III (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Iniencephaly	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Delta phalanx of finger (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Leydig cell agenesis	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acrocephalopolysyndactyly (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Holoprosencephaly sequence	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Second stage of two-stage epispadias repair	Direct morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Langer-Giedion syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Common cardiac atrium	Is a	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Common cardiac ventricle	Is a	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Single stage epispadias repair (procedure)	Direct morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
First stage of two-stage epispadias repair	Direct morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Second stage of two-stage epispadias repair	Direct morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Male epispadias repair	Direct morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Delta phalanx of finger (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital bronchomalacia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Port-wine stain of skin (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Isolation of left common carotid artery	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of vitreous humour	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of ear	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of the meninges	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Secondary congenital bronchomalacia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of trachea and bronchus	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1

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Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

POSSIBLY EQUIVALENT TO association reference set

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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
183283010	Congenital malformation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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