58371004: Congenital dilatation (morphologic abnormality)

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

Descriptions:

Id Description Lang Type Status Case? Module

97003018 Congenital dilatation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

797096013 Congenital dilatation (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

97003018 Congenital dilatation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

97003018 Congenital dilatation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

797096013 Congenital dilatation (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

797096013 Congenital dilatation (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital dilatation	Is a	Congenital cavitation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dilatation	Is a	Dilatation	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
L1 syndrome	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Capra DeMarco syndrome	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Agenesis of cerebellum and hydrocephalus syndrome (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present.	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hydrocephalus, tall stature, joint laxity syndrome (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Extensive aganglionosis Hirschsprung disease (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hydrocephalus, blue sclera, nephropathy syndrome (disorder)	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988.	Associated morphology	False	Congenital dilatation	Inferred relationship	Existential restriction modifier (core metadata concept)	5

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Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

SAME AS association reference set (foundation metadata concept)