67024003: Multiple congenital anomalies (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

111322016 Multiple congenital anomalies en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

806703011 Multiple congenital anomalies (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4624021000005116 multiple kongenitte anomalier 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
multiple kongenitte anomalier	Is a	kongenit anomali	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Disease with characteristics of craniosynostosis and facial hypoplasia. Craniosynostosis is variable but many sutures are usually involved. Facial anomalies include ocular hypertelorism, small beaked nose, proptosis, exophthalmos, hypoplastic maxilla and mandibular prognathism. Caused by mutations of the fibroblast growth factor receptor FGFR2 (10q25.3-q26) with 80% being located to the immunoglobulin (Ig)-like domain III (IgIII domain) of the extracellular region and an additional 20% of mutations being located in the IgI-IgII domains, transmembrane and tyrosine kinase regions. The disease is transmitted in an autosomal dominant manner with variable penetrance.	Associated morphology	False	multiple kongenitte anomalier	Inferred relationship	Some	1
Multiple anomalies of brain	Associated morphology	False	multiple kongenitte anomalier	Inferred relationship	Some	2
Aicardi's syndrome	Associated morphology	False	multiple kongenitte anomalier	Inferred relationship	Some	2
Aicardi's syndrome	Associated morphology	False	multiple kongenitte anomalier	Inferred relationship	Some	1
Aicardi's syndrome	Associated morphology	False	multiple kongenitte anomalier	Inferred relationship	Some	3
Aicardi's syndrome	Associated morphology	False	multiple kongenitte anomalier	Inferred relationship	Some	1
Aicardi's syndrome	Associated morphology	False	multiple kongenitte anomalier	Inferred relationship	Some	2
Multiple brain anomalies	Associated morphology	False	multiple kongenitte anomalier	Inferred relationship	Some	1
Aicardi's syndrome	Associated morphology	False	multiple kongenitte anomalier	Inferred relationship	Some	2
Aicardi's syndrome	Associated morphology	False	multiple kongenitte anomalier	Inferred relationship	Some	1
Disease with characteristics of craniosynostosis and facial hypoplasia. Craniosynostosis is variable but many sutures are usually involved. Facial anomalies include ocular hypertelorism, small beaked nose, proptosis, exophthalmos, hypoplastic maxilla and mandibular prognathism. Caused by mutations of the fibroblast growth factor receptor FGFR2 (10q25.3-q26) with 80% being located to the immunoglobulin (Ig)-like domain III (IgIII domain) of the extracellular region and an additional 20% of mutations being located in the IgI-IgII domains, transmembrane and tyrosine kinase regions. The disease is transmitted in an autosomal dominant manner with variable penetrance.	Associated morphology	False	multiple kongenitte anomalier	Inferred relationship	Some	1
Multiple brain anomalies	Associated morphology	False	multiple kongenitte anomalier	Inferred relationship	Some	1

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)