702418009: syndroom van hernia diaphragmatica, exomphalos en hypertelorisme (aandoening)

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

6214661000146114 facio-oculoacousticorenaal syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6214671000146115 middenrifbreuk-navelbreuk-hypertelorisme-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6214691000146116 FOAR-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6214711000146119 diafragmatische hernia-hypertelorisme-myopie-doofheid-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6215751000146116 Donnai-Barrow-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6549011000146119 syndroom met oculaire en faciale anomalieën, telecanthus en doofheid nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6674311000146114 syndroom van hernia diaphragmatica, exomphalos en hypertelorisme (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6674321000146116 syndroom van hernia diaphragmatica, exomphalos en hypertelorisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Diaphragmatic hernia-exomphalos-hypertelorism syndrome (disorder)	Is a	multisysteemaandoening	false	Inferred relationship	Some
Diaphragmatic hernia-exomphalos-hypertelorism syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets