699300009: oculofaciocardiodentaal syndroom (aandoening)

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

\Genetic disease\Hereditary disease\...

\Developmental hereditary disorder\Oculofaciocardiodental syndrome (disorder)

\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\Oculofaciocardiodental syndrome (disorder)

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Oculofaciocardiodental syndrome (disorder)

\Developmental disorder\Developmental hereditary disorder\Oculofaciocardiodental syndrome (disorder)
\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Oculofaciocardiodental syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

2983577012 Microphthalmia, cataract, radiculomegaly and septal heart defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2983599016 Oculo-facio-cardio-dental syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2983608013 Microphthalmia syndromic 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2983632018 Oculofaciocardiodental syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2983690011 Oculofaciocardiodental syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6144551000146115 oculofaciocardiodentaal syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6144561000146117 oculofaciocardiodentaal syndroom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6144571000146111 syndromale microftalmie 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6144591000146110 MCOPS2 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6144601000146117 microftalmie-cataract-radiculomegalie-hartseptumdefect-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6425941000146113 syndroom met microftalmie, cataract, radiculomegalie en hartseptumdefect nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6677571000146119 OFCD-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oculofaciocardiodental syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Oculofaciocardiodental syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Oculofaciocardiodental syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Oculofaciocardiodental syndrome (disorder)	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Oculofaciocardiodental syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Oculofaciocardiodental syndrome (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Oculofaciocardiodental syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Oculofaciocardiodental syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Oculofaciocardiodental syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Oculofaciocardiodental syndrome (disorder)	Is a	X-linked dominant hereditary disease (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set