66091009: Congenital disease (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Fetal and/or neonatal disorder\Congenital disease

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	Is a	Disease	false	Inferred relationship	Some
Congenital disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital disease	Is a	Fetal and/or neonatal disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.	Is a	True	Congenital disease	Inferred relationship	Some
An X-linked syndromic intellectual disability characterized by congenital ataxia and generalized hypotonia, global developmental delay with intellectual disability, myoclonic encephalopathy, progressive neurological deterioration, macular degeneration, and recurrent bronchopulmonary infections.	Is a	True	Congenital disease	Inferred relationship	Some
A rare genetic skin disease characterized by congenital generalized anhidrosis resulting in severe heat intolerance, due to functionally impaired eccrine sweat production. Skin biopsy reveals normal morphology and number of sweat glands. Dental, hair, nail, or other skin or extracutaneous anomalies are absent.	Is a	True	Congenital disease	Inferred relationship	Some
Non-syndromic mitochondrial sensorineural deafness (disorder)	Is a	True	Congenital disease	Inferred relationship	Some
Nemaline myopathy, early onset type	Is a	True	Congenital disease	Inferred relationship	Some
A rare ophthalmic disorder with cranial nerve involvement characterized by dysfunction of the superior oblique muscle with typical eye motility patterns including elevation in adduction, V-pattern related to reduced abduction force in downgaze with unopposed adduction by the inferior rectus muscle, and excyclotorsion. Patients may present with contralateral head tilt to compensate for vertical binocular misalignment and diplopia.	Is a	True	Congenital disease	Inferred relationship	Some
A rare ophthalmic disorder with cranial nerve involvement characterized by partial or complete ptosis and ophthalmoplegia with impaired ability to elevate, depress, or adduct the eyeball, causing strabismus and amblyopia. The pupils can also be dilated. The condition is typically unilateral and may present with or without aberrant regeneration.	Is a	True	Congenital disease	Inferred relationship	Some
Congenital horizontal gaze palsy (disorder)	Is a	True	Congenital disease	Inferred relationship	Some
Isolated congenital horizontal gaze paresis	Is a	True	Congenital disease	Inferred relationship	Some
Congenital monocular elevator palsy (disorder)	Is a	True	Congenital disease	Inferred relationship	Some
A rare endocrine disease characterized by neonatal hypoglycemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma ACTH and cortisol levels in the absence of structural pituitary defects, and sometimes low partial growth hormone deficiency is associated.	Is a	True	Congenital disease	Inferred relationship	Some
Congenital pseudopapilledema (disorder)	Is a	True	Congenital disease	Inferred relationship	Some
Congenital insensitivity to pain with severe intellectual disability is a rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay, and normal motor movement/behavior and strength. Affected cases retained hot and cold perception.	Is a	True	Congenital disease	Inferred relationship	Some
A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.	Is a	True	Congenital disease	Inferred relationship	Some
Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported.	Is a	True	Congenital disease	Inferred relationship	Some
Disorder of lysosomal enzyme	Is a	True	Congenital disease	Inferred relationship	Some
Congenital cutaneous mastocytosis	Is a	True	Congenital disease	Inferred relationship	Some
A combination of congenital hyperpigmented and hypopigmented skin lesions coexisting in the same individual.	Is a	True	Congenital disease	Inferred relationship	Some
Congenital benign giant pigmented nevus of skin (disorder)	Is a	True	Congenital disease	Inferred relationship	Some
Mongolian spot	Is a	True	Congenital disease	Inferred relationship	Some
Thyroid hormone responsiveness defect	Is a	True	Congenital disease	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
3921000077116	maladie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
10211000188115	pathologie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module