720495005: Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Developmental hereditary disorder\Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome
• \Developmental disorder\Developmental hereditary disorder\Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3321019015	Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3321020014	Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3321021013	Cassia Stocco dos Santos syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3321022018	A multiple congenital anomalies syndrome reported in the offsprings of a consanguineous couple with characteristics of multiple congenital skeletal, muscular, ocular and cardiac abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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