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

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Developmental hereditary disorder\Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder)

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder)

\Developmental disorder\Developmental hereditary disorder\Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder)
\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3321020014 Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3321021013 Cassia Stocco dos Santos syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

11345151000172113 syndrome de Cassia Stocco Dos Santos fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

11345161000172110 anophtalmie et mégalocornée avec syndrome de cardiopathie et d'anomalies squelettiques fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

11345171000172118 syndrome d'anophtalmie, de mégalocornée, de cardiopathie et d'anomalies squelettiques fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5085601000172112 syndroom van anoftalmie, megalocornea, hartaandoening en skeletafwijkingen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5085611000172110 syndroom van Cassia-Stocco-dos Santos nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5085621000172117 syndroom van anoftalmie, megalocornea, hartziekte en skeletafwijkingen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5085631000172119 syndroom van anoftalmie, megalocornea, hartafwijking en skeletafwijkingen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	1
Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3321019015	Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321020014	Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321021013	Cassia Stocco dos Santos syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
11345151000172113	syndrome de Cassia Stocco Dos Santos	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
11345161000172110	anophtalmie et mégalocornée avec syndrome de cardiopathie et d'anomalies squelettiques	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
11345171000172118	syndrome d'anophtalmie, de mégalocornée, de cardiopathie et d'anomalies squelettiques	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5085601000172112	syndroom van anoftalmie, megalocornea, hartaandoening en skeletafwijkingen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5085611000172110	syndroom van Cassia-Stocco-dos Santos	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5085621000172117	syndroom van anoftalmie, megalocornea, hartziekte en skeletafwijkingen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5085631000172119	syndroom van anoftalmie, megalocornea, hartafwijking en skeletafwijkingen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)