50493007: Congenital hyperplasia (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

84116013 Congenital hyperplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

788287017 Congenital hyperplasia (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2508181000005118 kongenit hyperplasi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
kongenit hyperplasi	Is a	kongenit vækstændring	false	Inferred relationship	Some
kongenit hyperplasi	Is a	Hyperplasia	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital mandibular hyperplasia	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Congenital horizontal mandibular hyperplasia	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Congenital vertical mandibular hyperplasia	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Congenital transverse mandibular hyperplasia	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Congenital alveolar hyperplasia of mandible	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Congenital alveolar hyperplasia of maxilla (disorder)	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Congenital hyperplasia of sebaceous glands of lip	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Congenital maxillary hyperplasia	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Congenital hyperplasia of intrahepatic bile duct	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Cholesterol monooxygenase (side-chain cleaving) deficiency	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Mild steroid 21-hydroxylase deficiency	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Steroid 21-monooxygenase deficiency, simple virilizing type	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Congenital hyperplasia of kidney	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	4
Congenital hyperplasia of muscle	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Steroid 21-monooxygenase deficiency, salt wasting type	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Hyperplasia of islet alpha cells with glucagon excess	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Congenital hypertrophy of retinal pigment epithelium	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
17 alpha-Hydroxyprogesterone aldolase deficiency	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Congenital mandibular hyperplasia	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Congenital hyperplasia of muscle	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
17 alpha-Hydroxyprogesterone aldolase deficiency	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	3
Congenital alveolar hyperplasia of maxilla (disorder)	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Congenital hyperplasia of intrahepatic bile duct	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Steroid 21-monooxygenase deficiency, simple virilizing type	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	3
Steroid 21-monooxygenase deficiency, salt wasting type	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	3
Congenital horizontal mandibular hyperplasia	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Congenital maxillary hyperplasia	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	3
Congenital hypertrophy of retinal pigment epithelium	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Congenital alveolar hyperplasia of mandible	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Congenital vertical mandibular hyperplasia	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Congenital transverse mandibular hyperplasia	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Cholesterol monooxygenase (side-chain cleaving) deficiency	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	3
Congenital hyperplasia of sebaceous glands of lip	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Hyperplasia of islet alpha cells with gastrin excess	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	4
Hyperplasia of islet alpha cells with glucagon excess	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	4
Hyperplasia of pancreatic islet beta cell	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	4
Islet cell hyperplasia	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	3
Congenital hyperplasia of sebaceous glands of lip	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	3
Congenital hyperplasia of intrahepatic bile duct	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	2
Testosterone 17-beta-dehydrogenase deficiency	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Deficiency of steroid 11-beta-monooxygenase	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Corticosterone 18-monooxygenase deficiency	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Deficiency of steroid 17-alpha-monooxygenase	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Pseudohermaphrodite, female with adrenocortical disorder	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Virilisation-adrenogenital syndrome	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Congenital adrenal hyperplasia	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Late onset congenital adrenal hyperplasia	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Salt-losing congenital adrenal hyperplasia	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
CAH - desmolase deficiency	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Salt-losing congenital adrenal hyperplasia with virilism	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Congenital hyperplasia of muscle	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	3
Congenital hyperplasia of sebaceous glands of lip	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	4
A rare form of congenital adrenal hyperplasia due to P450 oxidoreductase deficiency and characterized by glucocorticoid deficiency, virilization of external genitalia in females, and undervirilization in males. Findings range from severely affected infants with 46,XX and 46,XY disorders/differences of sex development (DSD) and cortisol deficiency to mildly affected women who appear to have polycystic ovary syndrome, or mildly affected men with gonadal insufficiency.	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	2
A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
A form of congenital adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenism.	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	2
Hyperinsulinism due to focal adenomatous hyperplasia (disorder)	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1
Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	4
Congenital hyperplasia of lung	Associated morphology	False	kongenit hyperplasi	Inferred relationship	Some	1

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
84116013	Congenital hyperplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
788287017	Congenital hyperplasia (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2508181000005118	kongenit hyperplasi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)