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
Hanhart's syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of genital organs	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculodento-osseous dysplasia - severe type	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Bipartite ossification of sternebra	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypoplasia of genital organ NEC NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Coffin-Lowry syndrome (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Atresia of genital organ NEC	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Reifenstein syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
[X]Other congenital lens malformations	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Port-wine stain in Rubinstein-Taybi syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Other congenital anomaly of clitoris	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mixed vascular malformation (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of tongue, mouth and pharynx	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Angiokeratoma circumscriptum	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Oculodento-osseous dysplasia - mild type	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital anomaly of endocrine ovary (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Synophrys	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Waardenburg syndrome type 3 (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Epicapsular star (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of the eyebrow	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital elongation of innominate artery	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Known OR suspected fetal hydrocephalus affecting obstetrical care	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Posterior chamber vascular anomalies NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cockayne syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
FG syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Double eyebrow (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital malformation of anterior pituitary	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
Flat palate (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Freeman-Sheldon syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Multiple malformation syndrome with facial-limb defects as major feature	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Townes syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital palato-esophageal incoordination	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Nager syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Jarcho-Levin syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Exstrophy of urinary bladder sequence	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Generalised essential telangiectasia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hypogonadism with prune belly syndrome (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cervical, vaginal and external female genital anomalies	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Perodactylia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Trichorhinophalangeal syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Vascular loops of inner ear	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Port-wine stain in proteus syndrome (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Holt-Oram syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Vascular malformation of the nervous system (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Indeterminate sex NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Van der Woude syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Other cervical, vaginal and external female genital anomaly NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cavernous hemangioma (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cervical, vaginal and external female genital anomalies, unspecified	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of salivary glands and ducts (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital fissure of epiglottis	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Other specified mouth and pharynx anomalies	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital vascular malformation due to inherited syndrome (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atretocephalus	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Female hypospadias (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Grafting of palate for cleft palate repair (procedure)	Direct morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
False hermaphrodite	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
[X]Other congenital malformations of renal artery	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Percutaneous transluminal ablation of congenital heart malformation	Direct morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mohr syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Shprintzen syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rieger syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hemicardia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital enlargement of nasopharynx	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Prune belly syndrome (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital anomaly of endocrine testis (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital malformation of the respiratory system	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Holoprosencephaly sequence	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
Rudimentary uterus in male	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Perodactylia of great toe	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Incomplete ossification of sternebra	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Perineal hypospadias	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
[X]Other congenital malformation syndromes with other skeletal changes	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Indeterminate sex and pseudohermaphroditism	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital anterior capsular pigmentation	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Penoscrotal hypospadias (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital pharyngeal polyp (disorder)	Associated 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
hypospadias balanique	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
angiodysplasie ostéodystrophique	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Developmental anomaly of vitelline duct	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Synotus	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Trichorhinophalangeal dysplasia type I	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cleft tongue	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mietens syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Central nervous system malformation in fetus affecting obstetrical care	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lack of ossification of sternebra	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Agnathus	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital short hard palate	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pure gonadal dysgenesis	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital vascular malformation (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital anomaly of endocrine gonad (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital anomaly of sternebra	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Correction of congenital anorectal malformation	Direct morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hooded clitoris	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Verrucous hemangioma of skin	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Coffin-Siris syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of artery NEC	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