702418009: Diaphragmatic hernia-exomphalos-hypertelorism syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Diaphragmatic hernia-exomphalos-hypertelorism syndrome (disorder)

Status: current, 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

2995024010 Diaphragmatic hernia-exomphalos-hypertelorism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995027015 Donnai-Barrow syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2995128011 Diaphragmatic hernia-exomphalos-corpus callosum agenesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995132017 Diaphragmatic hernia-exomphalos-hypertelorism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995700013 Faciooculoacousticorenal syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

11837181000172114 syndrome de Donnai-Barrow fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

11837191000172112 syndrome de hernie diaphragmatique, omphalocèle et hypertélorisme fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

11837201000172110 syndrome facio-oculo-acoustico-rénal fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4359331000172114 FOAR-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4359341000172119 middenrifbreuk-navelbreuk-hypertelorisme-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4359351000172117 syndroom met oculaire en faciale anomalieën, telecanthus en doofheid nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4359361000172115 Donnai-Barrow-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4359371000172112 diafragmatische hernia-hypertelorisme-myopie-doofheid-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4359381000172110 syndroom van hernia diaphragmatica, exomphalos en hypertelorisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4359391000172113 facio-oculoacousticorenaal syndroom 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
Diaphragmatic hernia-exomphalos-hypertelorism syndrome (disorder)	Is a	Multisystem disorder	false	Inferred relationship	Some
Diaphragmatic hernia-exomphalos-hypertelorism syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

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Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets