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

3027571000005111 Kongenit dilatation 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 dilatation	Is a	kongenit kavitation	false	Inferred relationship	Some
Kongenit dilatation	Is a	Dilatation	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.	Associated morphology	False	Kongenit dilatation	Inferred relationship	Some	1
A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.	Associated morphology	False	Kongenit dilatation	Inferred relationship	Some	2
A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth. The condition is fatal in the neonatal period. There have been no further descriptions in the literature since 1978.	Associated morphology	False	Kongenit dilatation	Inferred relationship	Some	1
A rare multiple congenital anomalies syndrome characterized 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	Kongenit dilatation	Inferred relationship	Some	2
Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.	Associated morphology	False	Kongenit dilatation	Inferred relationship	Some	2
Extensive aganglionosis Hirschsprung disease (disorder)	Associated morphology	False	Kongenit dilatation	Inferred relationship	Some	2
Hydrocephalus, blue sclera, nephropathy syndrome	Associated morphology	False	Kongenit dilatation	Inferred relationship	Some	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	Kongenit dilatation	Inferred relationship	Some	5

Start Previous Page 3 of 3

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)