66091009: Congenital disease (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Congenital disease (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital disease (disorder)	Is a	Disease	true	Inferred relationship	Some
Congenital disease (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
regional medfödd anomali	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital malformation	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital deformity	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Embryological remnant	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
dysmorfologisk struktur	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital immunodeficiency disease	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital anomaly of integument	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital anomaly of neck	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital anomaly of the hematopoietic system	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
medfödda anomalier hos foster	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital anomaly of digestive system	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital anomaly of musculoskeletal system	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital chromosomal disease	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
hamartos	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
kongenital anomali i andningssystemet	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital anomaly of trunk	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital infectious disease	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Inborn error of metabolism	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital anomaly of head	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital anomaly of nervous system	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital anomaly of animal tail	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital anomaly of cardiovascular system	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Ear, face and neck congenital anomalies	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Other specified face and neck anomalies	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Other specified nonteratogenic anomalies	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Unspecified anomaly of connective tissue	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Other specified integument anomaly	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Other and unspecified congenital anomalies	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Monster NOS	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
[X]Additional congenital disease classification terms	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
[X]Other specified congenital malformations of integument	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Integument anomalies NOS	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Other congenital anomalies	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Central nervous system (SNC)/head/neck congenital anomaly NOS	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Family history of congenital disease (situation)	Associated finding	False	Congenital disease (disorder)	Inferred relationship	Some	1
Family history: Anencephaly (situation)	Associated finding	False	Congenital disease (disorder)	Inferred relationship	Some
Family history: Congenital anomaly NOS	Associated finding	False	Congenital disease (disorder)	Inferred relationship	Some	1
Congenital meningocele	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Myofibromatosis	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital malformation of tongue, mouth and pharynx	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital functional disorders of the small intestine	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital anomaly of the thymus	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital anomaly of endocrine gland	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital anomaly of limb	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Abnormal umbilical cord	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
kongenital och utvecklingsbetingad myasteni	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Abdominal wall anomalies	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital obstruction of ureteropelvic junction	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Family history: Congenital gastrointestinal tract anomaly (situation)	Associated finding	False	Congenital disease (disorder)	Inferred relationship	Some
FH: Congenital GU anomaly	Associated finding	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital eye disorder screening	Has focus	False	Congenital disease (disorder)	Inferred relationship	Some
Infantile myofibromatosis	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital anomaly - oral/respiratory	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital hamartoma (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Nicolaides-Baraitser syndrome (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital malignant melanoma (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital hypothyroidism	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
kongenital adrenokortikal hyperplasi	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital vaginal enterocele	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital hypertonia (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
generaliserat uteblivet tandframbrott associerat med systemsjukdom	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital auditory imperception	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital disorder of facial nerve	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital myasthenic syndrome (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital end-plate acetylcholinesterase deficiency (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
medfödda och utvecklingsbetingade anomalier i nervsystemet	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital pseudobulbar palsy	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital dysphasia	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Infantile esotropia (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital vocal cord palsy (disorder)	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital factor IX deficiency variant	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital factor IX deficiency with inhibitor	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
medfödd von Willebrands sjukdom	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital fibrinogen abnormality	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital microvillous atrophy	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Pericellular fibrosis of congenital syphilis	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Pulmonic stenosis and congenital nephrosis	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital male infertility	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital adrenal hyperplasia	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Extensive congenital erosions, vesicles and reticulate scarring	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital myotonic dystrophy	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
medfödd eller förvärvad abnormitet i livmoderhals som påverkar graviditeten	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
medfödd eller förvärvad abnormitet i vagina som påverkar graviditeten	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
medfödd eller förvärvad abnormitet i vulva som påverkar graviditeten	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Malignant melanoma arising in congenital nevus	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Hydrocephalus associated with congenital aqueduct stenosis (disorder)	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital exotropia	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital primary adrenocortical hypofunction	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital sensory neuropathy with selective loss of small myelinated fibres	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital heart disease	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital anomaly of eye	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital myotonia, autosomal recessive form	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital secretory diarrhea	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Ectopic placenta	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital glucose-galactose malabsorption	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital fecaliths	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Pituitary dwarfism	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Metachromatic leukodystrophy, congenital type	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Abnormal tooth eruption	Is a	False	Congenital disease (disorder)	Inferred relationship	Some
Congenital lactase deficiency	Is a	True	Congenital disease (disorder)	Inferred relationship	Some
Congenital myotonia, autosomal dominant form	Is a	False	Congenital disease (disorder)	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
109766011	Congenital disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
500308011	Congenital disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
805666017	Congenital disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2478441000052112	medfödd sjukdom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)