66091009: Congenital disease (disorder)

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

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
109766011	Congenital disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
500308011	Congenital disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
805666017	Congenital disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Regional congenital anomaly	Is a	True	Congenital disease	Inferred relationship	Some
Congenital malformation	Is a	False	Congenital disease	Inferred relationship	Some
Congenital deformity	Is a	False	Congenital disease	Inferred relationship	Some
Embryological remnant	Is a	False	Congenital disease	Inferred relationship	Some
Dysmorphological structure	Is a	False	Congenital disease	Inferred relationship	Some
Congenital immunodeficiency disease	Is a	True	Congenital disease	Inferred relationship	Some
Congenital anomaly of integument	Is a	False	Congenital disease	Inferred relationship	Some
Congenital anomaly of neck	Is a	False	Congenital disease	Inferred relationship	Some
Congenital anomaly of the hematopoietic system	Is a	False	Congenital disease	Inferred relationship	Some
Congenital anomalies of fetus	Is a	False	Congenital disease	Inferred relationship	Some
Congenital anomaly of digestive system	Is a	False	Congenital disease	Inferred relationship	Some
Congenital anomaly of musculoskeletal system	Is a	False	Congenital disease	Inferred relationship	Some
Congenital chromosomal disease	Is a	False	Congenital disease	Inferred relationship	Some
Congenital hamartosis	Is a	False	Congenital disease	Inferred relationship	Some
Congenital anomaly of respiratory system	Is a	False	Congenital disease	Inferred relationship	Some
Congenital anomaly of trunk	Is a	False	Congenital disease	Inferred relationship	Some
Congenital infectious disease	Is a	True	Congenital disease	Inferred relationship	Some
Inborn error of metabolism	Is a	True	Congenital disease	Inferred relationship	Some
Congenital anomaly of head	Is a	False	Congenital disease	Inferred relationship	Some
Congenital anomaly of nervous system	Is a	False	Congenital disease	Inferred relationship	Some
Congenital anomaly of animal tail	Is a	False	Congenital disease	Inferred relationship	Some
Congenital anomaly of cardiovascular system	Is a	False	Congenital disease	Inferred relationship	Some
Ear, face and neck congenital anomalies	Is a	False	Congenital disease	Inferred relationship	Some
Other specified face and neck anomalies	Is a	False	Congenital disease	Inferred relationship	Some
Other specified nonteratogenic anomalies	Is a	False	Congenital disease	Inferred relationship	Some
Unspecified anomaly of connective tissue	Is a	False	Congenital disease	Inferred relationship	Some
Other specified integument anomaly	Is a	False	Congenital disease	Inferred relationship	Some
Other and unspecified congenital anomalies	Is a	False	Congenital disease	Inferred relationship	Some
Monster NOS	Is a	False	Congenital disease	Inferred relationship	Some
[X]Additional congenital disease classification terms	Is a	False	Congenital disease	Inferred relationship	Some
[X]Other specified congenital malformations of integument	Is a	False	Congenital disease	Inferred relationship	Some
Integument anomalies NOS	Is a	False	Congenital disease	Inferred relationship	Some
Other congenital anomalies	Is a	False	Congenital disease	Inferred relationship	Some
Central nervous system (SNC)/head/neck congenital anomaly NOS	Is a	False	Congenital disease	Inferred relationship	Some
Family history: Anencephaly (situation)	Associated finding	False	Congenital disease	Inferred relationship	Some
Congenital meningocele	Is a	False	Congenital disease	Inferred relationship	Some
Myofibromatosis	Is a	False	Congenital disease	Inferred relationship	Some
Congenital malformation of tongue, mouth and pharynx	Is a	False	Congenital disease	Inferred relationship	Some
Congenital functional disorders of the small intestine	Is a	False	Congenital disease	Inferred relationship	Some
Congenital anomaly of the thymus	Is a	False	Congenital disease	Inferred relationship	Some
Congenital anomaly of endocrine gland	Is a	False	Congenital disease	Inferred relationship	Some
Congenital anomaly of limb	Is a	False	Congenital disease	Inferred relationship	Some
Abnormal umbilical cord	Is a	False	Congenital disease	Inferred relationship	Some
Congenital and developmental myasthenia	Is a	False	Congenital disease	Inferred relationship	Some
Abdominal wall anomalies	Is a	False	Congenital disease	Inferred relationship	Some
Congenital pelviureteric junction obstruction (disorder)	Is a	True	Congenital disease	Inferred relationship	Some
Family history: Congenital gastrointestinal tract anomaly (situation)	Associated finding	False	Congenital disease	Inferred relationship	Some
FH: Congenital GU anomaly	Associated finding	False	Congenital disease	Inferred relationship	Some
Congenital eye disorder screening	Has focus	False	Congenital disease	Inferred relationship	Some
Infantile myofibromatosis	Is a	False	Congenital disease	Inferred relationship	Some
Congenital anomaly - oral/respiratory	Is a	False	Congenital disease	Inferred relationship	Some
Congenital hamartoma (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Nicolaides-Baraitser syndrome (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Congenital malignant melanoma (disorder)	Is a	True	Congenital disease	Inferred relationship	Some
Congenital hypothyroidism	Is a	True	Congenital disease	Inferred relationship	Some
Congenital adrenogenital syndrome	Is a	False	Congenital disease	Inferred relationship	Some
Congenital vaginal enterocele	Is a	False	Congenital disease	Inferred relationship	Some
Congenital hypertonia	Is a	True	Congenital disease	Inferred relationship	Some
Generalized failure of tooth eruption associated with systemic disease	Is a	False	Congenital disease	Inferred relationship	Some
Congenital auditory imperception	Is a	True	Congenital disease	Inferred relationship	Some
Congenital disorder of facial nerve	Is a	True	Congenital disease	Inferred relationship	Some
Congenital myasthenic syndrome (disorder)	Is a	True	Congenital disease	Inferred relationship	Some
Congenital end-plate acetylcholinesterase deficiency (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Congenital and developmental anomalies of the nervous system	Is a	False	Congenital disease	Inferred relationship	Some
Congenital pseudobulbar palsy	Is a	True	Congenital disease	Inferred relationship	Some
Congenital dysphasia	Is a	True	Congenital disease	Inferred relationship	Some
Congenital esotropia (disorder)	Is a	True	Congenital disease	Inferred relationship	Some
Congenital vocal cord palsy (disorder)	Is a	True	Congenital disease	Inferred relationship	Some
Congenital factor IX deficiency variant	Is a	False	Congenital disease	Inferred relationship	Some
Congenital factor IX deficiency with inhibitor	Is a	False	Congenital disease	Inferred relationship	Some
Congenital von Willebrand's disease	Is a	True	Congenital disease	Inferred relationship	Some
Congenital fibrinogen abnormality	Is a	True	Congenital disease	Inferred relationship	Some
Congenital microvillous atrophy	Is a	True	Congenital disease	Inferred relationship	Some
Pericellular fibrosis of congenital syphilis	Is a	True	Congenital disease	Inferred relationship	Some
Pulmonic stenosis and congenital nephrosis	Is a	False	Congenital disease	Inferred relationship	Some
Congenital male infertility	Is a	True	Congenital disease	Inferred relationship	Some
Congenital adrenal hyperplasia	Is a	False	Congenital disease	Inferred relationship	Some
Extensive congenital erosions, vesicles and reticulate scarring	Is a	True	Congenital disease	Inferred relationship	Some
Congenital myotonic dystrophy	Is a	True	Congenital disease	Inferred relationship	Some
Congenital OR acquired abnormality of cervix affecting pregnancy	Is a	False	Congenital disease	Inferred relationship	Some
Congenital OR acquired abnormality of vagina affecting pregnancy	Is a	False	Congenital disease	Inferred relationship	Some
Congenital OR acquired abnormality of vulva affecting pregnancy	Is a	False	Congenital disease	Inferred relationship	Some
Malignant melanoma arising in congenital nevus	Is a	False	Congenital disease	Inferred relationship	Some
Hydrocephalus associated with congenital aqueduct stenosis (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Congenital exotropia	Is a	False	Congenital disease	Inferred relationship	Some
Congenital primary adrenocortical hypofunction	Is a	True	Congenital disease	Inferred relationship	Some
Congenital sensory neuropathy with selective loss of small myelinated fibres	Is a	True	Congenital disease	Inferred relationship	Some
Congenital heart disease	Is a	False	Congenital disease	Inferred relationship	Some
Congenital anomaly of eye	Is a	False	Congenital disease	Inferred relationship	Some
Congenital myotonia, autosomal recessive form	Is a	False	Congenital disease	Inferred relationship	Some
Congenital secretory diarrhea	Is a	True	Congenital disease	Inferred relationship	Some
Ectopic placenta	Is a	False	Congenital disease	Inferred relationship	Some
Congenital glucose-galactose malabsorption	Is a	False	Congenital disease	Inferred relationship	Some
Congenital fecaliths	Is a	True	Congenital disease	Inferred relationship	Some
Pituitary dwarfism	Is a	False	Congenital disease	Inferred relationship	Some
Metachromatic leukodystrophy, congenital type	Is a	True	Congenital disease	Inferred relationship	Some
Abnormal tooth eruption	Is a	False	Congenital disease	Inferred relationship	Some
Congenital lactase deficiency	Is a	True	Congenital disease	Inferred relationship	Some
Congenital myotonia, autosomal dominant form	Is a	False	Congenital disease	Inferred relationship	Some
Congenital tremor syndrome	Is a	False	Congenital disease	Inferred relationship	Some
Congenital nystagmus	Is a	True	Congenital disease	Inferred relationship	Some

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