41010001: Maturation defect (morphologic abnormality)

SNOMED CT Concept\Body structure (body structure)\Morphologically altered structure\Morphologically abnormal structure\Growth alteration\Maturation defect

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

68413014 Maturation defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

777750015 Maturation defect (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
Maturation defect	Is a	Growth alteration	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Impaired mineralization	Is a	True	Maturation defect	Inferred relationship	Some
Aplasia	Is a	True	Maturation defect	Inferred relationship	Some
Maturation deceleration	Is a	True	Maturation defect	Inferred relationship	Some
Hamartoma	Is a	False	Maturation defect	Inferred relationship	Some
Hypoplasia	Is a	True	Maturation defect	Inferred relationship	Some
Maturation acceleration (morphologic abnormality)	Is a	True	Maturation defect	Inferred relationship	Some
Atavism	Is a	True	Maturation defect	Inferred relationship	Some
Dedifferentiation	Is a	True	Maturation defect	Inferred relationship	Some
Cleidocranial dysostosis	Associated morphology	False	Maturation defect	Inferred relationship	Some	1
Cleidocranial dysostosis	Associated morphology	False	Maturation defect	Inferred relationship	Some	9
Cleidocranial dysostosis	Associated morphology	True	Maturation defect	Inferred relationship	Some	3
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993.	Associated morphology	True	Maturation defect	Inferred relationship	Some	1
A rare otorhinolaryngological malformation characterised by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibres present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome, and may be associated with a hypoplastic internal auditory or cochlear nerve canal.	Associated morphology	True	Maturation defect	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe brain malformations associated with cerebral parenchymal underdevelopment, arthrogryposis and club feet due to mutations in KIAA1109 gene. Majority of the cases are early lethal. Milder cases may present with severe global developmental delay, intellectual disability, microcephaly, hydrocephaly, heart defects, renal problems, severe muscle hypotonia causing incapacity to stand without a support, epilepsy, syndactyly and variable dysmorphic facial features (including hypotelorism, hypertelorism, small eyes, low-set and posteriorly rotated ears, short nose, flattened nasal bridge, anteverted nares, retrognathia).	Associated morphology	True	Maturation defect	Inferred relationship	Some	1

This concept is not in any reference sets